A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283522



Internal ID22255160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:33021623..33043501hg38UCSC Ensembl
Outerchr10:33310551..33332429hg19UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg384744
hg194744
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249512
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283522
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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