A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215086



Internal ID20782126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140678652..140684147hg38UCSC Ensembl
chr5:140058237..140063732hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385496
hg195496
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407002
Supporting Variants
Samples
Known GenesHARS
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215086
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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