A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv673218



Internal ID15409870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223743709..223759379hg38UCSC Ensembl
Innerchr1:223931411..223947081hg19UCSC Ensembl
Innerchr1:221998034..222013704hg18UCSC Ensembl
Innerchr1:220238146..220253816hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3815671
hg1915671
hg1815671
hg1715671
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520609
Supporting Variants
Samples
Known GenesCAPN2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv673218
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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