A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964607



Internal ID18253158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23940426..23971403hg38UCSC Ensembl
Innerchr22:24282613..24313592hg19UCSC Ensembl
Innerchr22:22612613..22643592hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3830978
hg1930980
hg1830980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2261134, nssv2261133, nssv2261130, nssv2261126, nssv2261127, nssv2261135, nssv2261131, nssv2261132, nssv2261129, nssv2261128
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDDT, DDTL, GSTT2, GSTT2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964607
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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