A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969523



Internal ID22744458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54041862..54041862hg38UCSC Ensembl
chr20:52658401..52658401hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399019
Samples
Known GenesBCAS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969523
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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