A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16900317



Internal ID1002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28485163..28497163hg38UCSC Ensembl
chr1:28811675..28823675hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3812001
hg1912001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138384
Supporting Variants
Samples
Known GenesPHACTR4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16900317
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