A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946068



Internal ID18592918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91534204..91535356hg38UCSC Ensembl
Innerchr1:91999761..92000913hg19UCSC Ensembl
Innerchr1:91772349..91773501hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381153
hg191153
hg181153
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1776703, nssv1776707, nssv1776702, nssv1776710, nssv1776701, nssv1776706, nssv1776708, nssv1776709, nssv1776705, nssv1776704
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)nsv946068
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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