A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204070



Internal ID22352981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50942182..50942818hg38UCSC Ensembl
chr14:51408900..51409536hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38637
hg19637
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14430360
SamplesHG00514
Known GenesPYGL
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204070
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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