A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694525



Internal ID15431177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223743709..223766378hg38UCSC Ensembl
Innerchr1:223931411..223954080hg19UCSC Ensembl
Innerchr1:221998034..222020703hg18UCSC Ensembl
Innerchr1:220238146..220260815hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3822670
hg1922670
hg1822670
hg1722670
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521758
Supporting Variants
Samples
Known GenesCAPN2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694525
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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