A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216635



Internal ID22362570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11872298..11887529hg38UCSC Ensembl
Outerchr12:12025232..12040463hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3815232
hg1915232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255812
SamplesHG00513
Known GenesETV6, RNU6-19P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216635
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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