A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17042157



Internal ID95814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3352000..3358000hg38UCSC Ensembl
chr11:3373230..3379230hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495517
Supporting Variants
Samples
Known GenesZNF195
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17042157
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