A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966990



Internal ID45319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79292426..79292548hg38UCSC Ensembl
chr5:78588249..78588371hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465889
Supporting Variants
Samples
Known GenesJMY
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966990
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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