A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16996094



Internal ID64846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:32882626..32882706hg38UCSC Ensembl
chr7:32922238..32922318hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492061
Supporting Variants
Samples
Known GenesKBTBD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16996094
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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