A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527176



Internal ID15107783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215938866..215942366hg38UCSC Ensembl
Innerchr1:216112208..216115708hg19UCSC Ensembl
Innerchr1:214178831..214182331hg18UCSC Ensembl
Innerchr1:212500603..212504103hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383501
hg193501
hg183501
hg173501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703572
Samples
Known GenesUSH2A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527176
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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