A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216612



Internal ID22362553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:44872290..44881869hg38UCSC Ensembl
Outerchr13:45446426..45456004hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg389580
hg199579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257075
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216612
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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