A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964604



Internal ID18253155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23569388..23578378hg38UCSC Ensembl
Innerchr22:23911575..23920565hg19UCSC Ensembl
Innerchr22:22241575..22250565hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg388991
hg198991
hg188991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2259861, nssv2259862, nssv2259859, nssv2259858, nssv2259865, nssv2259863, nssv2259856, nssv2259864, nssv2259857, nssv2259860
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesIGLL1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964604
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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