A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17422322



Internal ID22480192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46877854..46879998hg38UCSC Ensembl
chr3:46919344..46921488hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382145
hg192145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896075
Supporting Variants
Samples
Known GenesPTH1R
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17422322
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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