A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439962



Internal ID218486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203247025..203248279hg38UCSC Ensembl
chr2:204111748..204113002hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg381255
hg191255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922914
Samples
Known GenesCYP20A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439962
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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