A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967799



Internal ID45851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52281013..52284473hg38UCSC Ensembl
chr5:51576847..51580307hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383461
hg193461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464585
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967799
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.02966


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