A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6405240



Internal ID21062793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146789747..147429203hg38UCSC Ensembl
chr5:146169310..146808766hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38639457
hg19639457
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213267
Samples
Known GenesDPYSL3, PPP2R2B, PPP2R2B-IT1, STK32A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6405240
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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