A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214199



Internal ID20781239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79987301..79996400hg38UCSC Ensembl
chr5:79283124..79292223hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg389100
hg199100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6404081
Supporting Variants
Samples
Known GenesMTX3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214199
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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