A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205328



Internal ID22354038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86694042..86694092hg38UCSC Ensembl
chr8:87706270..87706320hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14392361, nssv14438521, nssv14456837
SamplesNA19240, HG00733, HG00514
Known GenesCNGB3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205328
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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