A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231996



Internal ID22372389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:43908787..43918973hg38UCSC Ensembl
Outerchr12:44302590..44312776hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38853
hg19853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256116
SamplesHG00732
Known GenesTMEM117
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231996
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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