A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964636



Internal ID18599873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42001165..42007007hg38UCSC Ensembl
Innerchr22:42397169..42403011hg19UCSC Ensembl
Innerchr22:40727115..40732957hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg385843
hg195843
hg185843
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2269373, nssv2269370, nssv2269369, nssv2269368, nssv2269367, nssv2269375, nssv2269376, nssv2269371, nssv2269374, nssv2269372
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesWBP2NL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964636
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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