A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965983



Internal ID44645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53863847..53864794hg38UCSC Ensembl
chr5:53159677..53160624hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38948
hg19948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471741
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965983
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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