A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178254



Internal ID20745294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12253080..12253960hg38UCSC Ensembl
chr12:12406014..12406894hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6456113
Supporting Variants
Samples
Known GenesLRP6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178254
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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