A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223673



Internal ID22367367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48342421..48342490hg38UCSC Ensembl
chr17:46419783..46419852hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14378571, nssv14381747
SamplesHG00732, HG00733
Known GenesSKAP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223673
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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