A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978980



Internal ID18614183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11451671..11453679hg38UCSC Ensembl
Innerchr2:11591797..11593805hg19UCSC Ensembl
Innerchr2:11509248..11511256hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382009
hg192009
hg182009
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2162780, nssv2162786, nssv2162778, nssv2162787, nssv2162784, nssv2162782, nssv2162781, nssv2162779, nssv2162785, nssv2162783
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesE2F6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978980
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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