A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972932



Internal ID49325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:125028156..125028468hg38UCSC Ensembl
chr5:124363849..124364161hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455110
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972932
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.377577


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