A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401386



Internal ID180763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127432015..127432066hg38UCSC Ensembl
chr2:128189591..128189642hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917758
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401386
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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