A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979676



Internal ID18614877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38983765..38990616hg38UCSC Ensembl
Innerchr22:39379770..39386621hg19UCSC Ensembl
Innerchr22:37709716..37716567hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg386852
hg196852
hg186852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2267567, nssv2267563, nssv2267571, nssv2267570, nssv2267564, nssv2267565, nssv2267569, nssv2267568, nssv2267562, nssv2267566
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAPOBEC3A_B, APOBEC3B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979676
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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