A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540603



Internal ID315345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50327391..50327391hg38UCSC Ensembl
chr20:48943928..48943928hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732880
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540603
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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