A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952032



Internal ID22727367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146223105..146223105hg38UCSC Ensembl
chr3:145940892..145940892hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404892
Samples
Known GenesPLSCR4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952032
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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