A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699330



Internal ID122996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75051861..75056688hg38UCSC Ensembl
chr14:75518564..75523391hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg384828
hg194828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494576
Supporting Variants
Samples
Known GenesACYP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699330
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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