A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17002480



Internal ID69266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:118930465..118946229hg38UCSC Ensembl
chr7:118570519..118586283hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3815765
hg1915765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475429
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17002480
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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