A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972923



Internal ID49319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124976586..124979808hg38UCSC Ensembl
chr5:124312279..124315501hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg383223
hg193223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464490
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972923
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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