A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214216



Internal ID22360933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230323206..230344233hg38UCSC Ensembl
Outerchr2:231187921..231208948hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384299
hg194299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266024, nssv14266025
SamplesNA19239, NA19240
Known GenesSP140L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214216
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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