A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256358



Internal ID22189906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:117200410..117208237hg38UCSC Ensembl
Outerchr12:117638215..117646042hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg387828
hg197828
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225504
Supporting Variants
SamplesHG00731
Known GenesNOS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256358
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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