A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949687



Internal ID22725129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184631542..184631542hg38UCSC Ensembl
chr4:185552696..185552696hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17413348
Samples
Known GenesCASP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949687
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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