A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1970164



Internal ID17847610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:76592546..76593155hg38UCSC Ensembl
Innerchr13:77166681..77167290hg19UCSC Ensembl
Innerchr13:76064682..76065291hg18UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38610
hg19610
hg18610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv976135
Supporting Variants
SamplesHGDP01029
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1970164
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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