A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232124



Internal ID22359541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55333804..55344277hg38UCSC Ensembl
Outerchr12:55727588..55738061hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg387810
hg197810
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255898, nssv14255897
SamplesNA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232124
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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