A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006311



Internal ID71831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138828198..138830943hg38UCSC Ensembl
chr7:138512943..138515688hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382746
hg192746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484232
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006311
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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