A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551924



Internal ID325343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38481778..38481826hg38UCSC Ensembl
chr2:38708920..38708968hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911900
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551924
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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