A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7185n152



Internal ID22822888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8026898..8027224hg38UCSC Ensembl
chr5:8027011..8027337hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3173530, nsv3170849
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)dgv7185n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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