A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458719



Internal ID236739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139359298..139365266hg38UCSC Ensembl
chr5:138694987..138700955hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg385969
hg195969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976106
Samples
Known GenesPAIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458719
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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