A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206485



Internal ID22355019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32482360..32738983hg38UCSC Ensembl
chr6:32450137..32706760hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38256624
hg19256624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7823n152
Supporting Variantsnssv14436940
SamplesHG00514
Known GenesHLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DRB5, HLA-DRB6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206485
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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