A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18020587



Internal ID20587627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69212107..69216705hg38UCSC Ensembl
chr14:69678824..69683422hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg384599
hg194599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6490115
Supporting Variants
Samples
Known GenesEXD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18020587
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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