A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7676n152



Internal ID22823379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180113289..180113485hg38UCSC Ensembl
chr5:179540289..179540485hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3288395, nsv3286218
SamplesHG00733, HG00514
Known GenesRASGEF1C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7676n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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