A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5932633



Internal ID22707935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68442464..68445609hg38UCSC Ensembl
chr12:68836244..68839389hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg383146
hg193146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368121
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5932633
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