A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972746



Internal ID49195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117314875..117314947hg38UCSC Ensembl
chr5:116650571..116650643hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472426
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972746
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.049017


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