A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003960



Internal ID70269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:150001804..150300402hg38UCSC Ensembl
chr7:149698893..149997491hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38298599
hg19298599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5476607
Supporting Variants
Samples
Known GenesACTR3C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003960
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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