A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238372



Internal ID22374128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:107423440..107430769hg38UCSC Ensembl
Outerchr12:107817217..107824546hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255446, nssv14255445
SamplesNA19238, HG00731
Known GenesBTBD11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238372
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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