A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526469



Internal ID22395849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233724598..233724705hg38UCSC Ensembl
chr1:233860344..233860451hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14313628, nssv14313627
SamplesNA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526469
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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