A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003166



Internal ID69727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129744293..129771997hg38UCSC Ensembl
chr7:129384133..129411837hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg3827705
hg1927705
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487017
Supporting Variants
Samples
Known GenesMIR182, NRF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003166
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