A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244917



Internal ID22375995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48422191..48424503hg38UCSC Ensembl
Outerchr19:48925448..48927760hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382944
hg192944
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264790, nssv14264791
SamplesHG00732, HG00733
Known GenesGRIN2D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244917
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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