A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064452



Internal ID18806983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18888903..19019471hg38UCSC Ensembl
Innerchr22:18876416..19006984hg19UCSC Ensembl
Innerchr22:17256416..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38130569
hg19130569
hg18130569
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4473n100
Supporting Variantsnssv3731824, nssv3587212, nssv3590544, nssv3731847, nssv3731841, nssv3731846, nssv3731816, nssv3587269, nssv3587220, nssv3587206, nssv3587209, nssv3587255, nssv3587259, nssv3731849, nssv3587234, nssv3587242, nssv3731839, nssv3587251, nssv3587216, nssv3587214, nssv3587238, nssv3587230, nssv3587253, nssv3731829, nssv3587231, nssv3731825, nssv3587235, nssv3731828, nssv3731830, nssv3731827, nssv3587268, nssv3587244, nssv3590554, nssv3731817, nssv3731844, nssv3590547, nssv3590551, nssv3731821, nssv3587213, nssv3587232, nssv3587218, nssv3587223, nssv3587256, nssv3587226, nssv3731822, nssv3587240, nssv3731836, nssv3587262, nssv3590548, nssv3587260, nssv3587248, nssv3731818, nssv3587247, nssv3587204, nssv3590546, nssv3731820, nssv3587224, nssv3731833, nssv3587246, nssv3731831, nssv3731845, nssv3590545, nssv3587257, nssv3587254, nssv3587210, nssv3731838, nssv3590549, nssv3731843, nssv3587266, nssv3731834, nssv3731837, nssv3587252, nssv3587222, nssv3587264, nssv3731848, nssv3587225, nssv3587211, nssv3587229, nssv3587267, nssv3587250, nssv3587215, nssv3587249, nssv3587205, nssv3587221, nssv3731835, nssv3590550, nssv3587236, nssv3587217, nssv3587207, nssv3587239, nssv3587245, nssv3731840, nssv3587263, nssv3587265, nssv3587243, nssv3590553, nssv3731819, nssv3731815, nssv3587261, nssv3587208, nssv3731823, nssv3731842, nssv3731826, nssv3731832, nssv3587233, nssv3587241, nssv3587227, nssv3731850, nssv3587258, nssv3590552, nssv3587228, nssv3587237, nssv3587219
Samples
Known GenesDGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064452
Frequency
Sample Size29084
Observed Gain82
Observed Loss31
Observed Complex0
Frequencyn/a


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