A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897684



Internal ID172616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242644000..243188364hg38UCSC Ensembl
chr1:242807302..243351666hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38544365
hg19544365
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434437
Supporting Variants
Samples
Known GenesCEP170, LOC731275
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897684
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