A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906692



Internal ID5244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94499136..94499233hg38UCSC Ensembl
chr1:94964692..94964789hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423229
Supporting Variants
Samples
Known GenesABCD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906692
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