A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213126



Internal ID20780166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:121850801..121852600hg38UCSC Ensembl
chr5:121186496..121188295hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401258
Supporting Variants
Samples
Known GenesFTMT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213126
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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