A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448061



Internal ID226346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160015709..160021785hg38UCSC Ensembl
chr2:160872220..160878296hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg386077
hg196077
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920212
Samples
Known GenesPLA2R1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448061
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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