A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687314



Internal ID15077280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21811368..21938093hg38UCSC Ensembl
Innerchr1:22137861..22264586hg19UCSC Ensembl
Innerchr1:22010448..22137173hg18UCSC Ensembl
Innerchr1:21883167..22009892hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38126726
hg19126726
hg18126726
hg17126726
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515659
Supporting Variants
Samples
Known GenesHSPG2, LDLRAD2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv687314
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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