A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482531



Internal ID259986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72660164..72661986hg38UCSC Ensembl
chr8:73572399..73574221hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg381823
hg191823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011083
Samples
Known GenesKCNB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482531
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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