A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199474



Internal ID22349050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169495107..169495192hg38UCSC Ensembl
chr1:169464345..169464430hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14292610
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199474
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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