A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211857



Internal ID22359281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125657209..125657269hg38UCSC Ensembl
chr11:125527104..125527164hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1617n152
Supporting Variantsnssv14362140, nssv14362139
SamplesHG00731, HG00733
Known GenesCHEK1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211857
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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