A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205428



Internal ID22354117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58075716..58084548hg38UCSC Ensembl
chr12:58469499..58478331hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg388833
hg198833
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1862n152
Supporting Variantsnssv14375958
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205428
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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