A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7823n152



Internal ID22823526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32455899..32819812hg38UCSC Ensembl
chr6:32423676..32787589hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38363914
hg19363914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3196921, nsv3206485
SamplesHG00512, NA19238, HG00513, HG00514
Known GenesHLA-DOB, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRB1, HLA-DRB5, HLA-DRB6
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7823n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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