A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961547



Internal ID18250107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201209227..201214757hg38UCSC Ensembl
Innerchr2:202073950..202079480hg19UCSC Ensembl
Innerchr2:201782195..201787725hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385531
hg195531
hg185531
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2218146, nssv2218148, nssv2218141, nssv2218147, nssv2218142, nssv2218149, nssv2218150, nssv2218144, nssv2218145, nssv2218143
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCASP10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961547
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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