A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944185



Internal ID30120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194765428..194770198hg38UCSC Ensembl
chr3:194486157..194490927hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg384771
hg194771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436147
Supporting Variants
Samples
Known GenesLOC100507391
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944185
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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