A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247612



Internal ID22376767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:48432802..48434532hg38UCSC Ensembl
Outerchr15:48724999..48726729hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38580
hg19580
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258553
SamplesHG00512
Known GenesFBN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247612
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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