A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963714



Internal ID18598954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:118368763..118371136hg38UCSC Ensembl
Innerchr2:119126339..119128712hg19UCSC Ensembl
Innerchr2:118842809..118845182hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg382374
hg192374
hg182374
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2201060, nssv2201054, nssv2201053, nssv2201057, nssv2201059, nssv2201051, nssv2201058, nssv2201056, nssv2201055, nssv2201052
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963714
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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