A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2402469



Internal ID17497339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31980992..32057861hg38UCSC Ensembl
Innerchr6:31948769..32025638hg19UCSC Ensembl
Innerchr6:32056748..32133616hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3876870
hg1976870
hg1876869
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981129
Supporting Variants
SamplesHGDP01029
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, STK19, TNXA, TNXB
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)nssv2402469
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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