A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529365



Internal ID22398757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50766754..50767129hg38UCSC Ensembl
chr17:48844115..48844490hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14391183, nssv14378404
SamplesNA19239, NA19240
Known GenesLINC00483
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3529365
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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