A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694490



Internal ID15084456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:43121691..43216394hg38UCSC Ensembl
Innerchr6:43089429..43184132hg19UCSC Ensembl
Innerchr6:43197407..43292110hg18UCSC Ensembl
Innerchr6:43197407..43292110hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3894704
hg1994704
hg1894704
hg1794704
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521730
Supporting Variants
Samples
Known GenesCUL9, PTK7, SRF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694490
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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