A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16942657



Internal ID29107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187370818..187370895hg38UCSC Ensembl
chr3:187088606..187088683hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450097
Supporting Variants
Samples
Known GenesRTP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16942657
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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