A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979260



Internal ID18614463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130419566..130426661hg38UCSC Ensembl
Innerchr2:131177139..131184234hg19UCSC Ensembl
Innerchr2:130893609..130900704hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg387096
hg197096
hg187096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2671050, nssv2671046, nssv2671053, nssv2671052, nssv2671051, nssv2671054, nssv2671045, nssv2671048, nssv2671047, nssv2671049
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAR2P2
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979260
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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