A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973043



Internal ID49407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120342433..120348906hg38UCSC Ensembl
chr5:119678128..119684601hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg386474
hg196474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471585
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973043
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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