A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944480



Internal ID30327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194171129..194174732hg38UCSC Ensembl
chr3:193888918..193892521hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383604
hg193604
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445899
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944480
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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