A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256333



Internal ID22189856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13198853..13212566hg38UCSC Ensembl
Outerchr12:13351787..13365500hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3813714
hg1913714
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228027
Supporting Variants
SamplesHG00731
Known GenesEMP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256333
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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