A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699478



Internal ID123144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92556233..92559575hg38UCSC Ensembl
chr14:93022578..93025920hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg383343
hg193343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504014
Supporting Variants
Samples
Known GenesRIN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699478
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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