A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv978n152



Internal ID22816681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70220571..70220657hg38UCSC Ensembl
chr10:71980327..71980413hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3288327, nsv3283393, nsv3287353
SamplesNA19240, HG00733, HG00514
Known GenesPPA1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv978n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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