A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224860



Internal ID22368168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58955716..59003732hg38UCSC Ensembl
Outerchr12:59349497..59397513hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3848017
hg1948017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255819
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224860
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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