A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732719



Internal ID156385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47291334..47291385hg38UCSC Ensembl
chr20:45920078..45920129hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427890
Supporting Variants
Samples
Known GenesZMYND8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732719
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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