A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995477



Internal ID64420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44377915..44379919hg38UCSC Ensembl
chr7:44417514..44419518hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg382005
hg192005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477624
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16995477
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002342


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