A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246130



Internal ID22376334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113813367..113843647hg38UCSC Ensembl
Outerchr13:114516340..114546620hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg385602
hg195602
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2507n152
Supporting Variantsnssv14257481, nssv14257479, nssv14257480
SamplesNA19238, NA19240, HG00513
Known GenesGAS6, GAS6-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246130
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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