A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231343



Internal ID22372205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:131679214..131682401hg38UCSC Ensembl
Outerchr11:131549108..131552295hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg385005
hg195005
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254575, nssv14254576
SamplesNA19238, NA19240
Known GenesNTM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231343
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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