A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242474



Internal ID22375294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:66370637..66405497hg38UCSC Ensembl
Outerchr11:66138108..66172968hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg382362
hg192362
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255027, nssv14255022, nssv14255024, nssv14255026, nssv14255025, nssv14255023, nssv14255021
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesSLC29A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242474
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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