A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439771



Internal ID218303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234548735..234549969hg38UCSC Ensembl
chr1:234684481..234685715hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381235
hg191235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898682
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439771
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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