A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248073



Internal ID22376877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:128852803..128931696hg38UCSC Ensembl
Outerchr11:128722698..128801591hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg382490
hg192490
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254567, nssv14254568, nssv14254566, nssv14254564, nssv14254569, nssv14254572, nssv14254570, nssv14254565, nssv14254571
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesC11orf45, KCNJ1, KCNJ5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248073
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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