A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048367



Internal ID100115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74074249..74093201hg38UCSC Ensembl
chr11:73785294..73804246hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3818953
hg1918953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495356
Supporting Variants
Samples
Known GenesC2CD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048367
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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