A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211633



Internal ID22359126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:9393721..9413480hg38UCSC Ensembl
Outerchr1:9453780..9473539hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381447
hg191447
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260400, nssv14260399, nssv14260403, nssv14260397, nssv14260405, nssv14260398, nssv14260402, nssv14260401, nssv14260404
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)nsv3211633
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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