A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048231



Internal ID100026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:56611436..56611499hg38UCSC Ensembl
chr11:56378912..56378975hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503003
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048231
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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