A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231392



Internal ID22372216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68962951..68964877hg38UCSC Ensembl
Outerchr11:68730420..68732346hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38826
hg19826
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255087, nssv14255084, nssv14255085, nssv14255083, nssv14255089, nssv14255086, nssv14255088
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231392
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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