A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961413



Internal ID18249973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:69594058..69596971hg38UCSC Ensembl
Innerchr2:69821190..69824103hg19UCSC Ensembl
Innerchr2:69674694..69677607hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg382914
hg192914
hg182914
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2176201, nssv2176204, nssv2176206, nssv2176198, nssv2176203, nssv2176202, nssv2176199, nssv2176200, nssv2176205, nssv2176197
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAAK1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961413
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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