A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528478



Internal ID304534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84654540..84655564hg38UCSC Ensembl
chr16:84688146..84689170hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381025
hg191025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710228
Samples
Known GenesKLHL36
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528478
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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