A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18021117



Internal ID20588157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75053201..75058700hg38UCSC Ensembl
chr14:75519904..75525403hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6482652
Supporting Variants
Samples
Known GenesACYP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18021117
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.01637


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