A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613275



Internal ID21561580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241572784..241572784hg38UCSC Ensembl
chr2:242512199..242512199hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112349
SamplesHG00731
Known GenesBOK
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613275
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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