A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414086



Internal ID193371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44783332..44785657hg38UCSC Ensembl
chr1:45249004..45251329hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg382326
hg192326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904867
Samples
Known GenesBEST4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414086
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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