A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520724



Internal ID15101331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215904422..215906813hg38UCSC Ensembl
Innerchr1:216077764..216080155hg19UCSC Ensembl
Innerchr1:214144387..214146778hg18UCSC Ensembl
Innerchr1:212466159..212468550hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382392
hg192392
hg182392
hg172392
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv674800, nssv689743
Samples
Known GenesUSH2A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520724
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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