A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250293



Internal ID22377496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12550977..12574335hg38UCSC Ensembl
Outerchr19:12661791..12685149hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg383325
hg193325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262606
SamplesNA19238
Known GenesZNF564
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250293
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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