A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946064



Internal ID18592914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:90281036..90284234hg38UCSC Ensembl
Innerchr1:90746594..90749792hg19UCSC Ensembl
Innerchr1:90519182..90522380hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg383199
hg193199
hg183199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1776193, nssv1776195, nssv1776190, nssv1776187, nssv1776192, nssv1776188, nssv1776191, nssv1776194, nssv1776189, nssv1776186
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)nsv946064
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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