A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976543



Internal ID51756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:164732601..164780671hg38UCSC Ensembl
chr5:164159607..164207677hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3848071
hg1948071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456263
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976543
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer