A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218706



Internal ID22363964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56933769..56941137hg38UCSC Ensembl
chr17:55011130..55018498hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg387369
hg197369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14389559, nssv14382122
SamplesNA19238, NA19240
Known GenesCOIL
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218706
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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