A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250094



Internal ID22377445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:43406146..43437787hg38UCSC Ensembl
Outerchr10:43901594..43933235hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg381997
hg191997
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281400, nssv14281399, nssv14281404, nssv14281396, nssv14281397, nssv14281402, nssv14281403, nssv14281401, nssv14281398
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesHNRNPF, ZNF487
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250094
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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