A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979159



Internal ID18614362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:195334182..195340154hg38UCSC Ensembl
Innerchr2:196198906..196204878hg19UCSC Ensembl
Innerchr2:195907151..195913123hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg385973
hg195973
hg185973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2216270, nssv2216269, nssv2216267, nssv2216273, nssv2216266, nssv2216268, nssv2216272, nssv2216274, nssv2216271, nssv2216265
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)nsv979159
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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