A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6397080



Internal ID21054633
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 StatusM
Merged Variants
Supporting Variantsnssv18215083
Samples
Known GenesHBEGF, SLC4A9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6397080
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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