A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6040076



Internal ID21949419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4569201..4581742hg38UCSC Ensembl
chr17:4472496..4485037hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3812542
hg1912542
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17624927
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6040076
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