A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963215



Internal ID18251770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25808834..25814174hg38UCSC Ensembl
Innerchr2:26031703..26037043hg19UCSC Ensembl
Innerchr2:25885207..25890547hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg385341
hg195341
hg185341
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2165251, nssv2165259, nssv2165258, nssv2165254, nssv2165252, nssv2165253, nssv2165257, nssv2165256, nssv2165255, nssv2165250
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesASXL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963215
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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