A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004432



Internal ID70593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141481908..141481987hg38UCSC Ensembl
chr7:141181708..141181787hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481475
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004432
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