A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450994



Internal ID229186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225973677..225983998hg38UCSC Ensembl
chr1:226161377..226171699hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3810322
hg1910323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896781
Samples
Known GenesSDE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450994
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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