A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3186664



Internal ID22339314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109250571..109250962hg38UCSC Ensembl
chr1:109793193..109793584hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14431247
SamplesHG00514
Known GenesCELSR2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3186664
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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