A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2202686



Internal ID17850474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131585440..131692772hg38UCSC Ensembl
Innerchr2:132343013..132450345hg19UCSC Ensembl
Innerchr2:132059483..132166815hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38107333
hg19107333
hg18107333
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961887
Supporting Variants
SamplesHGDP01029
Known GenesLINC01087, POTEKP, RNU6-81P
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)nssv2202686
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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