A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006946



Internal ID72251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157431754..157431827hg38UCSC Ensembl
chr7:157224448..157224521hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477351
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006946
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.019201


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