A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047149



Internal ID99274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73868389..73908934hg38UCSC Ensembl
chr11:73579434..73619979hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3840546
hg1940546
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511572
Supporting Variants
Samples
Known GenesCOA4, PAAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047149
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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