A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451875



Internal ID230042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224592927..224604947hg38UCSC Ensembl
chr2:225457644..225469664hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3812021
hg1912021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928391
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451875
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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