A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16929206



Internal ID20179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:17700542..17704513hg38UCSC Ensembl
chr3:17742034..17746005hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg383972
hg193972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446615
Supporting Variants
Samples
Known GenesTBC1D5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16929206
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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