A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18191215



Internal ID20758255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59454401..59496600hg38UCSC Ensembl
chr14:59921119..59963318hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3842200
hg1942200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6487168
Supporting Variants
Samples
Known GenesGPR135, JKAMP, L3HYPDH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18191215
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00064


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