A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229242



Internal ID22367828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:135017130..135047551hg38UCSC Ensembl
Outerchr2:135774700..135805121hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg381560
hg191560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266570
SamplesNA19240
Known GenesMAP3K19
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229242
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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