A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256359



Internal ID22196497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120546570..120579843hg38UCSC Ensembl
Outerchr12:120984373..121017646hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3833274
hg1933274
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216882
Supporting Variants
SamplesHG00731
Known GenesPOP5, RNF10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256359
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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