A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178024



Internal ID20745064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69462501..70145400hg38UCSC Ensembl
chr14:69929218..70612117hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38682900
hg19682900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485840
Supporting Variants
Samples
Known GenesCCDC177, KIAA0247, LOC100289511, PLEKHD1, SLC10A1, SLC8A3, SMOC1, SRSF5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178024
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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