A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967539



Internal ID45674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82430250..82435807hg38UCSC Ensembl
chr5:81726069..81731626hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg385558
hg195558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465615
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967539
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000632


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