A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247914



Internal ID22376826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:34228012..34236388hg38UCSC Ensembl
Outerchr13:34802149..34810525hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg38851
hg19851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257524, nssv14257526, nssv14257525, nssv14257523
SamplesHG00512, NA19239, HG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247914
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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