A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2212962



Internal ID17882086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176199889..176201280hg38UCSC Ensembl
Innerchr2:177064617..177066008hg19UCSC Ensembl
Innerchr2:176772863..176774254hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381392
hg191392
hg181392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961532
Supporting Variants
SamplesHGDP01307
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)nssv2212962
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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