A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473183



Internal ID21130736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56034691..56047000hg38UCSC Ensembl
chr12:56428475..56440784hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3812310
hg1912310
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184369
Samples
Known GenesIKZF4, RPS26
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473183
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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