A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6040173



Internal ID21949516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:94363765..94380338hg38UCSC Ensembl
chr14:94830102..94846675hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg3816574
hg1916574
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17614694
Samples
Known GenesSERPINA1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6040173
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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