A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721120



Internal ID144786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8211619..8216535hg38UCSC Ensembl
chr19:8276503..8281419hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg384917
hg194917
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520320
Supporting Variants
Samples
Known GenesCERS4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721120
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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