A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2175877



Internal ID17886804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71082751..71086050hg38UCSC Ensembl
Innerchr2:71309881..71313180hg19UCSC Ensembl
Innerchr2:71163389..71166688hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg383300
hg193300
hg183300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961791
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)nssv2175877
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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