A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528011



Internal ID22397397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46913987..46914401hg38UCSC Ensembl
chr17:44991353..44991767hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14385513, nssv14375505, nssv14386928, nssv14385664
SamplesHG00512, NA19238, NA19240, HG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528011
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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