A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5617813



Internal ID21566118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27831211..27831211hg38UCSC Ensembl
chr2:28054078..28054078hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114087
SamplesNA19238
Known GenesRBKS
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5617813
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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