A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17041697



Internal ID95504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6412407..6413750hg38UCSC Ensembl
chr11:6433637..6434980hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381344
hg191344
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510159
Supporting Variants
Samples
Known GenesAPBB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17041697
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