A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949213



Internal ID22724664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:155491562..155491562hg38UCSC Ensembl
chr3:155209351..155209351hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17417189
Samples
Known GenesPLCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949213
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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