A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485840



Internal ID21143393
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 StatusM
Merged Variants
Supporting Variantsnssv18178024
Samples
Known GenesCCDC177, KIAA0247, LOC100289511, PLEKHD1, SLC10A1, SLC8A3, SMOC1, SRSF5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485840
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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