A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1095n152



Internal ID22816798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:126417903..126418218hg38UCSC Ensembl
chr10:128106472..128106787hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3523073, nsv3184159
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLINC00601
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)dgv1095n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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