A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6500170



Internal ID20873395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9684229..9803872hg38UCSC Ensembl
chr17:9587546..9707189hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38119644
hg19119644
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186083
Samples
Known GenesDHRS7C, USP43
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6500170
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