A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904822



Internal ID4034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42262409..42262460hg38UCSC Ensembl
chr1:42728080..42728131hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5407091
Supporting Variants
Samples
Known GenesFOXJ3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904822
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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