A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17043270



Internal ID96559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:10441892..10512161hg38UCSC Ensembl
chr11:10463439..10533708hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3870270
hg1970270
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499463
Supporting Variants
Samples
Known GenesAMPD3, MIR4485, MTRNR2L8, RNF141
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17043270
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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