A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5405930



Internal ID185271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170753024..170753075hg38UCSC Ensembl
chr2:171609534..171609585hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922220
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5405930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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