A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213125



Internal ID20780165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:121850001..121855500hg38UCSC Ensembl
chr5:121185696..121191195hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6411655
Supporting Variants
Samples
Known GenesFTMT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213125
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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