A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183795



Internal ID20750835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:53696237..53701835hg38UCSC Ensembl
chr14:54162955..54168553hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg385599
hg195599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6479622
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183795
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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