A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247301



Internal ID22376676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:54745122..54774909hg38UCSC Ensembl
Outerchr12:55138906..55168693hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383543
hg193543
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255914, nssv14255913
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247301
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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