A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486342



Internal ID263711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:72948314..72952543hg38UCSC Ensembl
chr10:74708072..74712301hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg384230
hg194230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17035993
Samples
Known GenesPLA2G12B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486342
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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