A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695116



Internal ID15085082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:36731504..37010701hg38UCSC Ensembl
Innerchr13:37305641..37584838hg19UCSC Ensembl
Innerchr13:36203641..36482838hg18UCSC Ensembl
Innerchr13:36203641..36482838hg17UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38279198
hg19279198
hg18279198
hg17279198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522336
Supporting Variants
Samples
Known GenesALG5, EXOSC8, RFXAP, SMAD9, SUPT20H
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695116
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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