A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522774



Internal ID15103381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19388208..19390411hg38UCSC Ensembl
Innerchr8:19245719..19247922hg19UCSC Ensembl
Innerchr8:19289999..19292202hg18UCSC Ensembl
Innerchr8:19289999..19292202hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382204
hg192204
hg182204
hg172204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698415
Samples
Known GenesSH2D4A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522774
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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