A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16929195



Internal ID20170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16340853..16344102hg38UCSC Ensembl
chr3:16382360..16385609hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg383250
hg193250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450968
Supporting Variants
Samples
Known GenesRFTN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16929195
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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