A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462501



Internal ID21120054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54834868..54838795hg38UCSC Ensembl
chr12:55228652..55232579hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383928
hg193928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001528
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462501
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