A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696035



Internal ID119701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72398212..72399725hg38UCSC Ensembl
chr14:72864920..72866433hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg381514
hg191514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512616
Supporting Variants
Samples
Known GenesRGS6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696035
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001873


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