A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215847



Internal ID20782887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131812719..131813933hg38UCSC Ensembl
chr5:131148412..131149626hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381215
hg191215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6404686
Supporting Variants
Samples
Known GenesLOC728637
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215847
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00097


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