A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16930561



Internal ID21118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:17596792..17608520hg38UCSC Ensembl
chr3:17638284..17650012hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3811729
hg1911729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447766
Supporting Variants
Samples
Known GenesTBC1D5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16930561
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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