A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2402372



Internal ID17497103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31829326..31830059hg38UCSC Ensembl
Innerchr6:31797103..31797836hg19UCSC Ensembl
Innerchr6:31905082..31905815hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38734
hg19734
hg18734
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969380
Supporting Variants
SamplesHGDP01029
Known GenesHSPA1B
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)nssv2402372
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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