A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967277



Internal ID45496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80056683..80056765hg38UCSC Ensembl
chr5:79352506..79352588hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457659
Supporting Variants
Samples
Known GenesTHBS4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967277
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002966


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