A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16940814



Internal ID27914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149126663..149130599hg38UCSC Ensembl
chr3:148844450..148848386hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg383937
hg193937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451791
Supporting Variants
Samples
Known GenesHPS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16940814
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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