A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212479



Internal ID20779519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116650002..116968427hg38UCSC Ensembl
chr5:115985698..116304123hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38318426
hg19318426
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401412
Supporting Variants
Samples
Known GenesLOC102467223
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212479
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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