A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698294



Internal ID121960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73484112..73486661hg38UCSC Ensembl
chr14:73950817..73953366hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg382550
hg192550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500737
Supporting Variants
Samples
Known GenesHEATR4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698294
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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