A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945381



Internal ID18245546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235110214..235112059hg38UCSC Ensembl
Innerchr1:235273529..235275374hg19UCSC Ensembl
Innerchr1:233340152..233341997hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg381846
hg191846
hg181846
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1825041, nssv1825034, nssv1825035, nssv1825040, nssv1825039, nssv1825038, nssv1825036, nssv1825037, nssv1825042, nssv1825043
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTOMM20
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945381
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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