A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv610n152



Internal ID22816313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234207442..234210488hg38UCSC Ensembl
chr1:234343188..234346234hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg383047
hg193047
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3186197, nsv3182628, nsv3180488
SamplesNA19240, HG00733, HG00514
Known GenesSLC35F3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv610n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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