A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401470



Internal ID180847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144880442..144880493hg38UCSC Ensembl
chr2:145638009..145638060hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920456
Samples
Known GenesTEX41
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401470
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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