A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257535



Internal ID22270542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:52055470..52056237hg38UCSC Ensembl
Outerchr13:52629606..52630373hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg383192
hg193192
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244622
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257535
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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