A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv139n152



Internal ID22815842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22570496..22570606hg38UCSC Ensembl
chr1:22896989..22897099hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3189833, nsv3173291
SamplesNA19240, HG00733
Known GenesEPHA8
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv139n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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