A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2281734



Internal ID17488199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:48329284..48340467hg38UCSC Ensembl
Innerchr3:48370774..48381957hg19UCSC Ensembl
Innerchr3:48345778..48356961hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3811184
hg1911184
hg1811184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967015
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)nssv2281734
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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