A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462190



Internal ID240123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82441376..82442393hg38UCSC Ensembl
chr4:83362529..83363546hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg381018
hg191018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16951449
Samples
Known GenesENOPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462190
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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