A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18021036



Internal ID20588076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72054203..72054849hg38UCSC Ensembl
chr14:72520920..72521566hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38647
hg19647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6482929
Supporting Variants
Samples
Known GenesRGS6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18021036
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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