A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231671



Internal ID22372297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:18207400..18225063hg38UCSC Ensembl
OuterchrUn_gl000212:36152..53815hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg381470
hg191470
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257319, nssv14257320, nssv14257321
SamplesNA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231671
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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