A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18123783



Internal ID20690823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114310628..114311148hg38UCSC Ensembl
chr5:113646325..113646845hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38521
hg19521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6398677
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18123783
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00024


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