A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14244479



Internal ID21309610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38967614..38979302hg38UCSC Ensembl
Outerchr22:38955461..38993623hg38UCSC Ensembl
Innerchr22:39363619..39375307hg19UCSC Ensembl
Outerchr22:39351466..39389628hg19UCSC Ensembl
Innerchr22:37693565..37705253hg18UCSC Ensembl
Outerchr22:37681412..37719574hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3838163
hg1938163
hg1838163
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170058
Supporting Variants
SamplesNGO_51
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14244479
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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