A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731623



Internal ID155289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:23404543..23404594hg38UCSC Ensembl
chr20:23385180..23385231hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428892
Supporting Variants
Samples
Known GenesNAPB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731623
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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