A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541752



Internal ID316311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48118675..48118675hg38UCSC Ensembl
chr19:48621932..48621932hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723835
Samples
Known GenesLIG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541752
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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