A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201593



Internal ID22350870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:41726505..41754169hg38UCSC Ensembl
Outerchr2:41953645..41981309hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3827665
hg1927665
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264063, nssv14264058, nssv14264064, nssv14264059, nssv14264062, nssv14264065, nssv14264066, nssv14264060, nssv14264061
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)nsv3201593
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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