A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205665



Internal ID22354330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134204720..134220196hg38UCSC Ensembl
Outerchr2:134962291..134977767hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3815477
hg1915477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264295, nssv14264293, nssv14264288, nssv14264287, nssv14264291, nssv14264289, nssv14264292, nssv14264294, nssv14264290
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205665
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer