A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243008



Internal ID22375443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55314305..55333804hg38UCSC Ensembl
Outerchr12:55708089..55727588hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3816309
hg1916309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255895, nssv14255896
SamplesNA19238, HG00513
Known GenesOR6C1, OR6C3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243008
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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