A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18009706



Internal ID20576746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52139448..52148542hg38UCSC Ensembl
chr13:52713584..52722677hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg389095
hg199094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6490658
Supporting Variants
Samples
Known GenesNEK3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18009706
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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