A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972783



Internal ID49220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117619209..117647593hg38UCSC Ensembl
chr5:116954904..116983288hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3828385
hg1928385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468907
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972783
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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