A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214843



Internal ID22361366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67520851..67524850hg38UCSC Ensembl
chr11:67288322..67292321hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14360544, nssv14360549, nssv14360545, nssv14360548, nssv14360547, nssv14360546, nssv14360543, nssv14360542, nssv14360550
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCABP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214843
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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