A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231977



Internal ID22372383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40142..45748hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg381526
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256084
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231977
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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