A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523707



Internal ID299932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48144795..48150953hg38UCSC Ensembl
chr19:48648052..48654210hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386159
hg196159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723836
Samples
Known GenesLIG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523707
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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