A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5409209



Internal ID188531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184970589..184970640hg38UCSC Ensembl
chr1:184939721..184939772hg19UCSC Ensembl
Cytoband1q25.3
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 Variantsnssv16893631
Samples
Known GenesFAM129A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5409209
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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