A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221494



Internal ID22365865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:32639205..32652135hg38UCSC Ensembl
Outerchr1:33104806..33117736hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg381050
hg191050
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262791, nssv14262797, nssv14262798, nssv14262302, nssv14262794, nssv14262796, nssv14262792, nssv14262795, nssv14262793
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRBBP4, ZBTB8OS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221494
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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