A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190559



Internal ID22341410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:81614168..81696094hg38UCSC Ensembl
Outerchr2:81841292..81923218hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3881927
hg1981927
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265225
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190559
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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