A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231395



Internal ID22372217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:152314..202075hg38UCSC Ensembl
Outerchr11:152314..202075hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg386612
hg196612
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254220, nssv14254215, nssv14254216, nssv14254217, nssv14254219, nssv14254218, nssv14254221
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known GenesLOC653486, ODF3, SCGB1C1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231395
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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