A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243314



Internal ID22375534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:124609779..124613798hg38UCSC Ensembl
Outerchr10:126298348..126302367hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381210
hg191210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252874, nssv14252875, nssv14252871, nssv14252870, nssv14252876, nssv14252873, nssv14252872
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known GenesLHPP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243314
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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