A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697740



Internal ID15087706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23396720..23450205hg38UCSC Ensembl
Innerchr13:23970859..24024344hg19UCSC Ensembl
Innerchr13:22868859..22922344hg18UCSC Ensembl
Innerchr13:22868859..22922344hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3853486
hg1953486
hg1853486
hg1753486
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521022
Supporting Variants
Samples
Known GenesSACS, SACS-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697740
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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