A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16992608



Internal ID62546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7483046..7483133hg38UCSC Ensembl
chr7:7522677..7522764hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141403
Supporting Variants
Samples
Known GenesCOL28A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16992608
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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