A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516843



Internal ID15444136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:40695858..40695944hg38UCSC Ensembl
Innerchr13:41269994..41270080hg19UCSC Ensembl
Innerchr13:40167994..40168080hg18UCSC Ensembl
Innerchr13:40167994..40168080hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
hg1787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv682081, nssv654385
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516843
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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