A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201487



Internal ID22350788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:176397113..176423357hg38UCSC Ensembl
Outerchr2:177261841..177288085hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3826245
hg1926245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263810, nssv14264372, nssv14263811, nssv14264373, nssv14263812, nssv14263808, nssv14263809, nssv14264374, nssv14263807
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)nsv3201487
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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