A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446127



Internal ID224456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241800868..241834283hg38UCSC Ensembl
chr2:242740283..242776460hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3833416
hg1936178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928843
Samples
Known GenesGAL3ST2, NEU4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446127
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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