A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6091742



Internal ID22000975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14184049..14184049hg38UCSC Ensembl
chr17:14087366..14087366hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17617751
Samples
Known GenesCOX10
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6091742
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