A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5932816



Internal ID22708120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55897128..55897755hg38UCSC Ensembl
chr12:56290912..56291539hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38628
hg19628
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353417
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5932816
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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