A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242801



Internal ID22375387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:127784938..127812677hg38UCSC Ensembl
Outerchr10:129583202..129610941hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg382321
hg192321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1102n152
Supporting Variantsnssv14252934, nssv14252933, nssv14252937, nssv14252935, nssv14252932, nssv14252936
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242801
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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