A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238523



Internal ID22374181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:51157656..51182584hg38UCSC Ensembl
Outerchr13:51731792..51756720hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg382681
hg192681
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256710, nssv14256707, nssv14256706, nssv14256709, nssv14256708
SamplesHG00512, NA19238, HG00732, HG00733, HG00513
Known GenesLINC00371
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238523
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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