A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461630



Internal ID239576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147001157..147012737hg38UCSC Ensembl
chr5:146380720..146392300hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3811581
hg1911581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976257
Samples
Known GenesPPP2R2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461630
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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