A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530434



Internal ID306419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3141402..3145615hg38UCSC Ensembl
chr19:3141400..3145613hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384214
hg194214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720538
Samples
Known GenesGNA15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530434
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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