A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423471



Internal ID202491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58042701..58042752hg38UCSC Ensembl
chr20:56617757..56617808hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733323
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423471
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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