A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973427



Internal ID22748363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58042699..58042699hg38UCSC Ensembl
chr20:56617755..56617755hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395697
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973427
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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