A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951911



Internal ID22727252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160274955..160274955hg38UCSC Ensembl
chr2:161131466..161131466hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402635
Samples
Known GenesRBMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5951911
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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