A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451071



Internal ID229258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117901063..117909989hg38UCSC Ensembl
chr2:118658639..118667565hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg388927
hg198927
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918342
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451071
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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