A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256334



Internal ID22189859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:16348171..16383124hg38UCSC Ensembl
Outerchr12:16501105..16536058hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3834954
hg1934954
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225599
Supporting Variants
SamplesHG00731
Known GenesMGST1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256334
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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