A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2289009



Internal ID17834265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:112520118..112531347hg38UCSC Ensembl
Innerchr3:112238965..112250194hg19UCSC Ensembl
Innerchr3:113721655..113732884hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3811230
hg1911230
hg1811230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965197
Supporting Variants
SamplesHGDP00998
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)nssv2289009
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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