A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534220



Internal ID310057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2254905..2254952hg38UCSC Ensembl
chr19:2254904..2254951hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720364
Samples
Known GenesJSRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534220
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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