A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv41n152



Internal ID22815744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2602164..2602249hg38UCSC Ensembl
chr1:2533603..2533688hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3180506, nsv3186249
SamplesNA19240, HG00733, HG00514
Known GenesMMEL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv41n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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