A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917301



Internal ID22692520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:101529813..101568124hg38UCSC Ensembl
chr11:101400544..101438855hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3838312
hg1938312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355912
Samples
Known GenesTRPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5917301
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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