A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215924



Internal ID22362089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23883284..23912256hg38UCSC Ensembl
Outerchr1:24209774..24238746hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381435
hg191435
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262199, nssv14262197, nssv14262198, nssv14262200, nssv14262201, nssv14262196
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240
Known GenesCNR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215924
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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