A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227208



Internal ID22369772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:104816749..104827191hg38UCSC Ensembl
Outerchr2:105433207..105443649hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg382663
hg192663
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267380, nssv14267381, nssv14267382
SamplesHG00731, HG00732, HG00733
Known GenesLOC100506421
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227208
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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