A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973345



Internal ID49610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119917230..120019834hg38UCSC Ensembl
chr5:119252925..119355529hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38102605
hg19102605
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468382
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973345
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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