A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701223



Internal ID15091189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49532425..49533153hg38UCSC Ensembl
Innerchr13:50106561..50107289hg19UCSC Ensembl
Innerchr13:49004562..49005290hg18UCSC Ensembl
Innerchr13:49004562..49005290hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38729
hg19729
hg18729
hg17729
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525151
Supporting Variants
Samples
Known GenesRCBTB1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701223
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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