A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238611



Internal ID22374208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:35245502..35250482hg38UCSC Ensembl
Outerchr11:35267049..35272029hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg381091
hg191091
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254120, nssv14254115, nssv14254122, nssv14254119, nssv14254118, nssv14254121, nssv14254116, nssv14254117
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238611
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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