A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7339n152



Internal ID22823042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55105973..55106247hg38UCSC Ensembl
chr5:54401801..54402075hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3281788, nsv3281609
SamplesNA19240, HG00733
Known GenesGZMA
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7339n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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