A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699700



Internal ID15089666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216344293..216456074hg38UCSC Ensembl
Innerchr1:216517635..216629416hg19UCSC Ensembl
Innerchr1:214584258..214696039hg18UCSC Ensembl
Innerchr1:212906030..213017811hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38111782
hg19111782
hg18111782
hg17111782
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523863
Supporting Variants
Samples
Known GenesUSH2A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699700
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer