A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528613



Internal ID304664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44615022..44621051hg38UCSC Ensembl
chr19:45118332..45124349hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg386030
hg196018
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725247
Samples
Known GenesIGSF23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528613
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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