A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979693



Internal ID18614894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16367189..16386171hg38UCSC Ensembl
Innerchr22:16847851..16866833hg19UCSC Ensembl
Innerchr22:15227543..15246833hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3818983
hg1918983
hg1819291
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2682771, nssv2682769, nssv2682770, nssv2682764, nssv2682767, nssv2682762, nssv2682766, nssv2682765, nssv2682763, nssv2682768
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979693
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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