A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17373427



Internal ID22599096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69102265..69106212hg38UCSC Ensembl
chr14:69568982..69572929hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg383948
hg193948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5934236
Supporting Variants
Samples
Known GenesDCAF5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17373427
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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