A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5569311



Internal ID21517667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241561418..241561519hg38UCSC Ensembl
chr2:242500833..242500934hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112333
SamplesHG00512
Known GenesBOK
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5569311
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