A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979003



Internal ID18614206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47883223..47883823hg38UCSC Ensembl
Innerchr2:48110362..48110962hg19UCSC Ensembl
Innerchr2:47963866..47964466hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38601
hg19601
hg18601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2172456, nssv2172455, nssv2172454, nssv2172459, nssv2172450, nssv2172452, nssv2172453, nssv2172451, nssv2172457, nssv2172458
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFBXO11
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979003
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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