A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183463



Internal ID20750503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51021426..51040163hg38UCSC Ensembl
chr12:51415209..51433946hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3818738
hg1918738
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6470262
Supporting Variants
Samples
Known GenesSLC11A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183463
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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