A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413325



Internal ID192617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:150491370..150491421hg38UCSC Ensembl
chr2:151347884..151347935hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920895
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413325
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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