A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6489994



Internal ID21147547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120483080..120485092hg38UCSC Ensembl
chr12:120920883..120922895hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382013
hg192013
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182606
Samples
Known GenesDYNLL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6489994
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