A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433647



Internal ID212353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42180468..42180518hg38UCSC Ensembl
chr1:42646139..42646189hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901717
Samples
Known GenesFOXJ3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433647
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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