A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974815



Internal ID50592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120244548..120260529hg38UCSC Ensembl
chr5:119580243..119596224hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3815982
hg1915982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464409
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974815
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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