A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964580



Internal ID18599817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17023055..17034926hg38UCSC Ensembl
Innerchr22:17503945..17515816hg19UCSC Ensembl
Innerchr22:15883945..15895816hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3811872
hg1911872
hg1811872
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2253778, nssv2253782, nssv2253787, nssv2253784, nssv2253783, nssv2253780, nssv2253785, nssv2253781, nssv2253786, nssv2253779
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)nsv964580
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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