A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944251



Internal ID22719713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12232732..12232909hg38UCSC Ensembl
chr19:12343547..12343724hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401619
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944251
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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