A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506497



Internal ID283244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52056534..52072421hg38UCSC Ensembl
chr13:52630670..52646557hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3815888
hg1915888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687772
Samples
Known GenesNEK5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506497
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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