A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230039



Internal ID22371693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:15862705..15883364hg38UCSC Ensembl
Outerchr12:16015639..16036298hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3820660
hg1920660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254851, nssv14254852
SamplesHG00512, HG00514
Known GenesSTRAP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230039
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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