A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961920



Internal ID18250480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:190216386..190219936hg38UCSC Ensembl
Innerchr2:191081112..191084662hg19UCSC Ensembl
Innerchr2:190789357..190792907hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg383551
hg193551
hg183551
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2214615, nssv2214617, nssv2214614, nssv2214610, nssv2214618, nssv2214612, nssv2214616, nssv2214619, nssv2214611, nssv2214613
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHIBCH
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961920
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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