A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242832



Internal ID22375394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12769304..12785425hg38UCSC Ensembl
Outerchr12:12922238..12938359hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38783
hg19783
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256102
SamplesHG00731
Known GenesAPOLD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242832
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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