A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6024644



Internal ID21933987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47769648..47769710hg38UCSC Ensembl
chr12:48163431..48163493hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17615631
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6024644
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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