A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210692



Internal ID22358512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:112581246..112595701hg38UCSC Ensembl
Outerchr12:113019050..113033505hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3814456
hg1914456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255214, nssv14255215
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210692
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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