A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946066



Internal ID18592916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91023056..91024862hg38UCSC Ensembl
Innerchr1:91488613..91490419hg19UCSC Ensembl
Innerchr1:91261201..91263007hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381807
hg191807
hg181807
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1776385, nssv1776384, nssv1776382, nssv1776388, nssv1776383, nssv1776387, nssv1776386, nssv1776389, nssv1776381, nssv1776380
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)nsv946066
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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