A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239184



Internal ID22374358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:99825140..99844248hg38UCSC Ensembl
Outerchr10:101584897..101604005hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg381264
hg191264
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252727, nssv14252726, nssv14252728, nssv14252724, nssv14252725
SamplesHG00512, NA19238, NA19239, HG00731, HG00513
Known GenesABCC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239184
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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