A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228027



Internal ID22370339
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1740n152
Supporting Variantsnssv14256333
SamplesHG00731
Known GenesEMP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228027
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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