A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961903



Internal ID18597149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:159460843..159462958hg38UCSC Ensembl
Innerchr2:160317354..160319469hg19UCSC Ensembl
Innerchr2:160025600..160027715hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg382116
hg192116
hg182116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2209516, nssv2209521, nssv2209513, nssv2209518, nssv2209512, nssv2209515, nssv2209520, nssv2209519, nssv2209514, nssv2209517
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBAZ2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961903
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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