A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977745



Internal ID22752680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1167321..1167321hg38UCSC Ensembl
chr20:1147965..1147965hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394522
Samples
Known GenesPSMF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977745
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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