A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18021337



Internal ID20588377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80675927..80676451hg38UCSC Ensembl
chr14:81142271..81142795hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38525
hg19525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6487675
Supporting Variants
Samples
Known GenesCEP128
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18021337
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00097


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