A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527478



Internal ID303578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47244560..47245753hg38UCSC Ensembl
chr19:47747817..47749010hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381194
hg191194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723752
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527478
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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