A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439606



Internal ID218141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199951705..199951785hg38UCSC Ensembl
chr2:200816428..200816508hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927849
Samples
Known GenesTYW5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439606
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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