A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898149



Internal ID172914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243516885..243517044hg38UCSC Ensembl
chr1:243680187..243680346hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445119
Supporting Variants
Samples
Known GenesAKT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898149
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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