A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5614426



Internal ID21562731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204212698..204212698hg38UCSC Ensembl
chr2:205077421..205077421hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111179
SamplesHG03371
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5614426
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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