A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv920n152



Internal ID22816623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48653714..48657021hg38UCSC Ensembl
chr10:49861759..49865066hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg383308
hg193308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3229218, nsv3212827
SamplesHG00512, HG00731, NA19240, HG00514
Known GenesARHGAP22
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv920n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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