A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234061



Internal ID22372919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46364841..46407576hg38UCSC Ensembl
Outerchr21:47784756..47827490hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5624n152
Supporting Variantsnssv14267674, nssv14267675
SamplesHG00512, NA19240
Known GenesPCNT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234061
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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