A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694659



Internal ID15084625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225848608..225880162hg38UCSC Ensembl
Innerchr1:226036309..226067862hg19UCSC Ensembl
Innerchr1:224102932..224134485hg18UCSC Ensembl
Innerchr1:222343044..222374597hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3831555
hg1931554
hg1831554
hg1731554
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520628
Supporting Variants
Samples
Known GenesTMEM63A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694659
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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