A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962794



Internal ID18598036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:39027860..39030721hg38UCSC Ensembl
Innerchr22:39423865..39426726hg19UCSC Ensembl
Innerchr22:37753811..37756672hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382862
hg192862
hg182862
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2267759, nssv2267760, nssv2267765, nssv2267762, nssv2267763, nssv2267756, nssv2267761, nssv2267757, nssv2267764, nssv2267758
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAPOBEC3D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962794
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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