A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7994n152



Internal ID22823697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82259963..82270243hg38UCSC Ensembl
chr6:82969680..82979960hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3810281
hg1910281
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3171077, nsv3181355, nsv3182295
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7994n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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