A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232041



Internal ID22372404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:114077668..114102939hg38UCSC Ensembl
Outerchr10:115837427..115862698hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg381960
hg191960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252805, nssv14252808, nssv14252804, nssv14252802, nssv14252803, nssv14252809, nssv14252807, nssv14252806, nssv14252810
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)nsv3232041
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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