A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5405081



Internal ID184426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:153255881..153255932hg38UCSC Ensembl
chr2:154112395..154112446hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920556
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5405081
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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