A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18130492



Internal ID20697532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43085710..43088964hg38UCSC Ensembl
chr5:43085812..43089066hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg383255
hg193255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6382400
Supporting Variants
Samples
Known GenesLOC100506639
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18130492
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00679


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