A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1960908



Internal ID17879140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:47763546..47767367hg38UCSC Ensembl
Innerchr13:48337681..48341502hg19UCSC Ensembl
Innerchr13:47235682..47239503hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg383822
hg193822
hg183822
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974088
Supporting Variants
SamplesHGDP01307
Known Genes
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)nssv1960908
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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