A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452128



Internal ID230289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227372968..227378626hg38UCSC Ensembl
chr2:228237684..228243342hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg385659
hg195659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926164
Samples
Known GenesTM4SF20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452128
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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