A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946619



Internal ID18593469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207083842..207085051hg38UCSC Ensembl
Innerchr1:207257187..207258396hg19UCSC Ensembl
Innerchr1:205323810..205325019hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381210
hg191210
hg181210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1816407, nssv1816401, nssv1816400, nssv1816403, nssv1816399, nssv1816402, nssv1816408, nssv1816406, nssv1816404, nssv1816405
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)nsv946619
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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