A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5564627



Internal ID21512932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105209434..105211968hg38UCSC Ensembl
chr2:105825891..105828425hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg382535
hg192535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107290
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5564627
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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