A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908024



Internal ID6137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110010170..110010239hg38UCSC Ensembl
chr1:110552792..110552861hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433302
Supporting Variants
Samples
Known GenesAHCYL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908024
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