A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939904



Internal ID22715304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51933259..51933347hg38UCSC Ensembl
chr12:52327043..52327131hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363114
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939904
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