A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246547



Internal ID22376449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:114066492..114122968hg38UCSC Ensembl
Outerchr13:114831967..114888443hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2525n152
Supporting Variantsnssv14257384, nssv14257385
SamplesHG00512, HG00731
Known GenesRASA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246547
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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