CNV Lookup
Resolve a deletion or duplication to its GRCh38 region and visualize the genes it contains.
Paste directly from lab reports
Coordinates chr16:29500000-30200000Prefix DEL:chr17:36486532-37745203Cytoband 16p11.2 deletionISCN del(15)(q11.2q13.1)Array arr[GRCh38] 17q21.31(46M-47M)x1HGVS NC_000017.11:g.36M_37MdelSyndrome DiGeorge, WilliamsClinVar VCV000012345
GRCh38 / hg38 coordinates only
Common CNV syndromes & regions
DiGeorgeWilliamsAngelmanPrader-WilliPhelan-McDermidCri-du-chatSmith-MagenisWolf-HirschhornKoolen-de VriesKleefstra16p11.2 del15q13.3 del1q21.1 del22q11.21 del17q12 del3q29 del1p36 del16p11.2 dupdup15q14q12 del (FOXG1)2q23.1 del (MBD5)15q11.2 del (BP1-BP2)2q37 del1q43-q44 delJacobsen (11q)Rubinstein-Taybi2q33.1 del (SATB2)MECP2 dup (Xq28)