A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213164



Internal ID22360192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230118354..230130440hg38UCSC Ensembl
Outerchr2:230983070..230995156hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38546
hg19546
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266217, nssv14266216
SamplesHG00512, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213164
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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