A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213557



Internal ID22360468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1557158..1618537hg38UCSC Ensembl
Outerchr20:1537804..1599183hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3861380
hg1961380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266594, nssv14266598, nssv14266595, nssv14266597, nssv14266596, nssv14266599, nssv14266600
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesSIRPB1, SIRPD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213557
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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