A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17360756



Internal ID22586425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:264259..295382hg38UCSC Ensembl
chr11:264259..295382hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3831124
hg1931124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5910989
Supporting Variants
Samples
Known GenesATHL1, NLRP6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17360756
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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