A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3186517



Internal ID22339241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201683072..201683150hg38UCSC Ensembl
chr2:202547795..202547873hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14407591
SamplesNA19240
Known GenesMPP4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3186517
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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