A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973124



Internal ID49467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123081381..123081451hg38UCSC Ensembl
chr5:122417076..122417146hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454028
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973124
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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