A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6486783



Internal ID21144336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130811694..130855214hg38UCSC Ensembl
chr12:131296239..131339759hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3843521
hg1943521
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18189588
Samples
Known GenesSTX2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6486783
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