A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447865



Internal ID226156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36553087..36555844hg38UCSC Ensembl
chr2:36780230..36782987hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg382758
hg192758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912168
Samples
Known GenesFEZ2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447865
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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