A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492380



Internal ID269594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39239068..39239243hg38UCSC Ensembl
chr8:39096587..39096762hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009584
Samples
Known GenesADAM32
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492380
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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