A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215083



Internal ID20782123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140340155..140396210hg38UCSC Ensembl
chr5:139719740..139775795hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3856056
hg1956056
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6397080
Supporting Variants
Samples
Known GenesHBEGF, SLC4A9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215083
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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