A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216396



Internal ID22362401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238866205..238884436hg38UCSC Ensembl
Outerchr2:239774846..239793077hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267450, nssv14267449
SamplesHG00732, HG00733
Known GenesTWIST2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216396
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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