A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206274



Internal ID22354840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:651687..651759hg38UCSC Ensembl
chr4:645476..645548hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6360n152
Supporting Variantsnssv14311192, nssv14311191
SamplesNA19239, NA19240
Known GenesPDE6B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206274
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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