A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233646



Internal ID22372811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:103216418..103275562hg38UCSC Ensembl
Outerchr10:104976175..105035319hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg382159
hg192159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252771, nssv14252764, nssv14252766, nssv14252768, nssv14252770, nssv14252769, nssv14252767, nssv14252765, nssv14252763
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOC729020
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233646
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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