A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231708



Internal ID22372309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:86254552..86280198hg38UCSC Ensembl
Outerchr11:85965594..85991240hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg38896
hg19896
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254313, nssv14254312, nssv14254319, nssv14254316, nssv14254314, nssv14254317, nssv14254318, nssv14254315
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesEED, MIR6755
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231708
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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