A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447793



Internal ID226084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128092250..128094737hg38UCSC Ensembl
chr2:128849824..128852311hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382488
hg192488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920019
Samples
Known GenesUGGT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447793
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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