A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452674



Internal ID230820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28384434..28388720hg38UCSC Ensembl
chr2:28607301..28611587hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg384287
hg194287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911329
Samples
Known GenesFLJ31356
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452674
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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