A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2215801



Internal ID17727382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187746144..187760742hg38UCSC Ensembl
Innerchr2:188610871..188625469hg19UCSC Ensembl
Innerchr2:188319116..188333714hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3814599
hg1914599
hg1814599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961539
Supporting Variants
SamplesHGDP00456
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)nssv2215801
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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