A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699448



Internal ID15089414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19048003..19184659hg38UCSC Ensembl
Innerchr13:19622143..19758799hg19UCSC Ensembl
Innerchr13:18520143..18656799hg18UCSC Ensembl
Innerchr13:18520143..18656799hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38136657
hg19136657
hg18136657
hg17136657
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523647
Supporting Variants
Samples
Known GenesRNU6-52P, TUBA3C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699448
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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