A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236582



Internal ID22373627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58955716..59003732hg38UCSC Ensembl
Outerchr12:59349497..59397513hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg385174
hg195174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255917, nssv14255916
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236582
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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