A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6503251



Internal ID20876504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:13571735..13589655hg38UCSC Ensembl
chr17:13475052..13492972hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3817921
hg1917921
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183662
Samples
Known GenesHS3ST3A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6503251
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