A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236294



Internal ID22373540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:108681158..108741547hg38UCSC Ensembl
Outerchr10:110440916..110501305hg19UCSC Ensembl
Cytoband10q25.1
Allele length
AssemblyAllele length
hg381054
hg191054
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252796, nssv14252801, nssv14252783, nssv14252800, nssv14252797, nssv14252799, nssv14252798, nssv14252794, nssv14252795
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)nsv3236294
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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