A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6039558



Internal ID21948901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14313090..14314134hg38UCSC Ensembl
chr17:14216407..14217451hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381045
hg191045
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17635105
Samples
Known GenesHS3ST3B1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6039558
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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