A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232636



Internal ID22372556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:19776154..19801158hg38UCSC Ensembl
Outerchr12:19929088..19954092hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255315, nssv14256115, nssv14255314
SamplesNA19238, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232636
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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