A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551536



Internal ID324980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:52743736..52743736hg38UCSC Ensembl
chr20:51360275..51360275hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38493
hg19493
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733012
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551536
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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