A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256071



Internal ID22200376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129083807..129103140hg38UCSC Ensembl
Outerchr12:129568352..129587685hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381906
hg191906
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244020
Supporting Variants
SamplesHG00732
Known GenesTMEM132D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256071
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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