A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1957027



Internal ID17447677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:26568347..26580345hg38UCSC Ensembl
Innerchr13:27142484..27154482hg19UCSC Ensembl
Innerchr13:26040484..26052482hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3811999
hg1911999
hg1811999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974070
Supporting Variants
SamplesHGDP00778
Known GenesWASF3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1957027
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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