A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217569



Internal ID22363190
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 Variantsnssv14447267
SamplesHG00733
Known GenesCHEK1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217569
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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