A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963627



Internal ID18598867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:80161970..80163169hg38UCSC Ensembl
Innerchr2:80389096..80390295hg19UCSC Ensembl
Innerchr2:80242607..80243806hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg381200
hg191200
hg181200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2179482, nssv2179480, nssv2179487, nssv2179486, nssv2179484, nssv2179481, nssv2179483, nssv2179485, nssv2179488, nssv2179489
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCTNNA2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963627
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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