A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243552



Internal ID22375606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:127688280..127723563hg38UCSC Ensembl
Outerchr12:128172825..128208108hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38687
hg19687
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255973, nssv14255974, nssv14255975
SamplesHG00512, NA19239, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243552
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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