A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6531080



Internal ID20904441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51112368..51119051hg38UCSC Ensembl
chr17:49189729..49196412hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg386684
hg196684
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18194859
Samples
Known GenesSPAG9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6531080
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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