A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2403121



Internal ID17426060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29874997..29896765hg38UCSC Ensembl
Innerchr6:29842774..29864542hg19UCSC Ensembl
Innerchr6:29950753..29972521hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3821769
hg1921769
hg1821769
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965703
Supporting Variants
SamplesHGDP00542
Known GenesHLA-H
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)nssv2403121
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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