A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699161



Internal ID122827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:94315095..94315240hg38UCSC Ensembl
chr14:94781432..94781577hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494554
Supporting Variants
Samples
Known GenesSERPINA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699161
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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