A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243038



Internal ID22375453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:76745605..76777830hg38UCSC Ensembl
Outerchr14:77211948..77244173hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257802
SamplesNA19238
Known GenesVASH1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243038
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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