A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17446502



Internal ID22504372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28260894..28269745hg38UCSC Ensembl
chr7:28300513..28309364hg19UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg388852
hg198852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5912357
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17446502
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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