A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472251



Internal ID21129804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:108135979..108141337hg38UCSC Ensembl
chr11:108006706..108012064hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg385359
hg195359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17986585
Samples
Known GenesACAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472251
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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