A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv480n152



Internal ID22816183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180859063..180859118hg38UCSC Ensembl
chr1:180828199..180828254hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3170804, nsv3188021
SamplesNA19240, HG00733, HG00514
Known GenesXPR1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv480n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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