A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2213593



Internal ID17784242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176242113..176242800hg38UCSC Ensembl
Innerchr2:177106841..177107528hg19UCSC Ensembl
Innerchr2:176815087..176815774hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38688
hg19688
hg18688
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963750
Supporting Variants
SamplesHGDP00665
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)nssv2213593
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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