A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125012



Internal ID20692052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111840184..111840700hg38UCSC Ensembl
chr5:111175881..111176397hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6409731
Supporting Variants
Samples
Known GenesNREP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125012
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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