A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946090



Internal ID18592940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:99007759..99008644hg38UCSC Ensembl
Innerchr1:99473315..99474200hg19UCSC Ensembl
Innerchr1:99245903..99246788hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38886
hg19886
hg18886
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1776732, nssv1776729, nssv1776727, nssv1776733, nssv1776726, nssv1776731, nssv1776724, nssv1776730, nssv1776728, nssv1776725
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100129620
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946090
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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