A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2762519



Internal ID17875605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38960507..38992130hg38UCSC Ensembl
Innerchr22:39356512..39388135hg19UCSC Ensembl
Innerchr22:37686458..37718081hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3831624
hg1931624
hg1831624
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964630
Supporting Variants
SamplesHGDP01284
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2762519
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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