A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527040



Internal ID303147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47489947..47490056hg38UCSC Ensembl
chr19:47993204..47993313hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723777
Samples
Known GenesNAPA, NAPA-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527040
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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