A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247664



Internal ID22376657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:88355948..88391117hg38UCSC Ensembl
Outerchr12:88749725..88784894hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg381209
hg191209
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255940
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247664
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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