A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940876



Internal ID22716290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47339657..47340727hg38UCSC Ensembl
chr12:47733440..47734510hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381071
hg191071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353634
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940876
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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