A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5896494



Internal ID22671588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147001157..147012736hg38UCSC Ensembl
chr5:146380720..146392299hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3811580
hg1911580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17412053
Samples
Known GenesPPP2R2B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5896494
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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