A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6494836



Internal ID21152389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120547573..120548950hg38UCSC Ensembl
chr12:120985376..120986753hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381378
hg191378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997454
Samples
Known GenesRNF10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6494836
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