A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451251



Internal ID229437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235909267..235909349hg38UCSC Ensembl
chr1:236072567..236072649hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898399
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451251
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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