A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465982



Internal ID243833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7404227..7477869hg38UCSC Ensembl
chr7:7443858..7517500hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3873643
hg1973643
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16992598
Samples
Known GenesCOL28A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465982
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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