A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6496009



Internal ID20869207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4791309..4804826hg38UCSC Ensembl
chr17:4694604..4708121hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3813518
hg1913518
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184080
Samples
Known GenesPSMB6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6496009
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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