A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235249



Internal ID22373239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:94949378..94964077hg38UCSC Ensembl
Outerchr11:94682543..94697242hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg384188
hg194188
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254731, nssv14254732, nssv14254730, nssv14254734, nssv14254733
SamplesNA19239, HG00731, HG00732, NA19240, HG00733
Known GenesCWC15
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235249
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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