A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5610258



Internal ID21558563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45414955..45414955hg38UCSC Ensembl
chr2:45642094..45642094hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114350
SamplesHG03009
Known GenesSRBD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5610258
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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