A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18123108



Internal ID20690148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112928001..112936800hg38UCSC Ensembl
chr5:112263698..112272497hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg388800
hg198800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6413034
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18123108
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00056


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