A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5895555



Internal ID22670639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146590452..146602096hg38UCSC Ensembl
chr3:146308239..146319883hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3811645
hg1911645
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17411111
Samples
Known GenesPLSCR5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5895555
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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