A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231932



Internal ID22333030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:44653961..44675133hg38UCSC Ensembl
Outerchr11:44675511..44696683hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381093
hg191093
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253714, nssv14253711, nssv14253713, nssv14253716, nssv14253715, nssv14253710, nssv14253712, nssv14253709
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231932
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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