A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248491



Internal ID22377002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:51965438..51973982hg38UCSC Ensembl
Outerchr15:52257635..52266179hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg381022
hg191022
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259570
SamplesNA19238
Known GenesLEO1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248491
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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