A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18133273



Internal ID20700313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6605334..6613504hg38UCSC Ensembl
chr5:6605447..6613617hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg388171
hg198171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6381907
Supporting Variants
Samples
Known GenesNSUN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18133273
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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