A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416745



Internal ID195962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119561835..119599835hg38UCSC Ensembl
chr1:120104458..120142458hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3838001
hg1938001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16888999
Samples
Known GenesHSD3BP4, LINC00622
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416745
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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