A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256368



Internal ID22207504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13202906..13213404hg38UCSC Ensembl
Outerchr12:13355840..13366338hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3810499
hg1910499
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217662
Supporting Variants
SamplesHG00732
Known GenesEMP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256368
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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