A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528999



Internal ID22398392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:72685321..72685448hg38UCSC Ensembl
chr17:70681460..70681587hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282609, nssv14282611, nssv14282610
SamplesHG00512, NA19239, NA19240
Known GenesSLC39A11
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528999
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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