A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250043



Internal ID22377436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6286226..6307290hg38UCSC Ensembl
Outerchr12:6395392..6416456hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381504
hg191504
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256194, nssv14256196, nssv14256195, nssv14256193
SamplesHG00512, NA19238, NA19239, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250043
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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