A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975827



Internal ID22750762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44931042..44931042hg38UCSC Ensembl
chr20:43559683..43559683hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399513
Samples
Known GenesPABPC1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975827
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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