A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435406



Internal ID214054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201841515..201846520hg38UCSC Ensembl
chr1:201810643..201815648hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385006
hg195006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894686
Samples
Known GenesIPO9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435406
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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