A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16992124



Internal ID62195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:783364..816454hg38UCSC Ensembl
chr7:823001..856091hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3833091
hg1933091
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471371
Supporting Variants
Samples
Known GenesHEATR2, SUN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16992124
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