A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240377



Internal ID22374686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:18871675..18878721hg38UCSC Ensembl
Outerchr12:19024609..19031655hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38666
hg19666
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255313
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240377
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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