A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223090



Internal ID22366962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8840123..8840179hg38UCSC Ensembl
chr17:8743440..8743496hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14384032
SamplesNA19238
Known GenesPIK3R6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223090
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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