A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961234



Internal ID22736192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27831211..27831211hg38UCSC Ensembl
chr2:28054078..28054078hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406790
Samples
Known GenesRBKS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961234
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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