A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964617



Internal ID18599854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29399379..29423206hg38UCSC Ensembl
Innerchr22:29795368..29819195hg19UCSC Ensembl
Innerchr22:28125368..28149195hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3823828
hg1923828
hg1823828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2263190, nssv2263189, nssv2263185, nssv2263187, nssv2263193, nssv2263194, nssv2263186, nssv2263191, nssv2263188, nssv2263192
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)nsv964617
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer