A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701192



Internal ID15437844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110608920..110627655hg38UCSC Ensembl
Innerchr13:111261267..111280002hg19UCSC Ensembl
Innerchr13:110059268..110078003hg18UCSC Ensembl
Innerchr13:110059268..110078003hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3818736
hg1918736
hg1818736
hg1718736
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525124
Supporting Variants
Samples
Known GenesCARKD
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701192
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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