A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215408



Internal ID22361756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48854316..48857892hg38UCSC Ensembl
chr17:46931678..46935254hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg383577
hg193577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14374647, nssv14390345, nssv14388529
SamplesNA19238, NA19239, NA19240
Known GenesCALCOCO2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215408
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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