A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16997352



Internal ID65774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45042463..45042549hg38UCSC Ensembl
chr7:45082062..45082148hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485551
Supporting Variants
Samples
Known GenesCCM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16997352
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