A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612918



Internal ID21561223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21562226..21562226hg38UCSC Ensembl
chr2:21785098..21785098hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111260
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612918
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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