A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212858



Internal ID22359981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:21942225..21983778hg38UCSC Ensembl
Outerchr12:22095159..22136712hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3841554
hg1941554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255542, nssv14255543
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212858
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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