A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962797



Internal ID18251353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41182537..41191917hg38UCSC Ensembl
Innerchr22:41578541..41587921hg19UCSC Ensembl
Innerchr22:39908487..39917867hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg389381
hg199381
hg189381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2268513, nssv2268517, nssv2268514, nssv2268519, nssv2268510, nssv2268512, nssv2268511, nssv2268516, nssv2268518, nssv2268515
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)nsv962797
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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