A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732677



Internal ID156343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46501968..46502019hg38UCSC Ensembl
chr20:45130607..45130658hg19UCSC 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 Variantsnsv5415780
Supporting Variants
Samples
Known GenesZNF334
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732677
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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