A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211977



Internal ID22359360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234609691..234651931hg38UCSC Ensembl
Outerchr2:235518335..235560575hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382591
hg192591
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5053n152
Supporting Variantsnssv14265611, nssv14265610
SamplesHG00732, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211977
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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