A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232317



Internal ID22372472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128074230..128109217hg38UCSC Ensembl
Outerchr12:128558775..128593762hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381793
hg191793
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257034, nssv14257032, nssv14257027, nssv14257031, nssv14257029, nssv14257028, nssv14257030, nssv14257033, nssv14257035
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOC100996679
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232317
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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