A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255802



Internal ID22198403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129083807..129101312hg38UCSC Ensembl
Outerchr12:129568352..129585857hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3817506
hg1917506
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220808
Supporting Variants
SamplesHG00732
Known GenesTMEM132D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255802
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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