A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979866



Internal ID18615067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:112690293..112697450hg38UCSC Ensembl
Innerchr3:112409140..112416297hg19UCSC Ensembl
Innerchr3:113891830..113898987hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg387158
hg197158
hg187158
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2290952, nssv2290957, nssv2290956, nssv2290955, nssv2290953, nssv2290959, nssv2290951, nssv2290958, nssv2290954, nssv2290960
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)nsv979866
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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