A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908046



Internal ID6151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110483809..110485838hg38UCSC Ensembl
chr1:111026431..111028460hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382030
hg192030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416653
Supporting Variants
Samples
Known GenesCYMP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908046
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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