A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621793



Internal ID21570098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26851335..26851335hg38UCSC Ensembl
chr2:27074203..27074203hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112863
SamplesNA19238
Known GenesDPYSL5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621793
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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