A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6501697



Internal ID20874934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1674273..1691434hg38UCSC Ensembl
chr17:1577567..1594728hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3817162
hg1917162
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186405
Samples
Known GenesPRPF8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6501697
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer