A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213243



Internal ID20780283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144853516..144854033hg38UCSC Ensembl
chr5:144233079..144233596hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38518
hg19518
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6404996
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213243
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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