A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961022



Internal ID18249583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:27455067..27456306hg38UCSC Ensembl
Innerchr2:27677934..27679173hg19UCSC Ensembl
Innerchr2:27531438..27532677hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381240
hg191240
hg181240
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2167236, nssv2167233, nssv2167239, nssv2167238, nssv2167235, nssv2167241, nssv2167234, nssv2167232, nssv2167237, nssv2167240
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesIFT172
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961022
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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