A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966102



Internal ID18601332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:30653719..30654829hg38UCSC Ensembl
Innerchr22:31049706..31050816hg19UCSC Ensembl
Innerchr22:29379706..29380816hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381111
hg191111
hg181111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2264585, nssv2264592, nssv2264588, nssv2264586, nssv2264583, nssv2264584, nssv2264587, nssv2264590, nssv2264591, nssv2264589
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)nsv966102
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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