A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2402710



Internal ID17837080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31269474..31284048hg38UCSC Ensembl
Innerchr6:31237251..31251825hg19UCSC Ensembl
Innerchr6:31345230..31359804hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3814575
hg1914575
hg1814575
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969378
Supporting Variants
SamplesHGDP00998
Known GenesHLA-C
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)nssv2402710
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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