A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524221



Internal ID300430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1424741..1424820hg38UCSC Ensembl
chr19:1424740..1424819hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720257
Samples
Known GenesDAZAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524221
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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