A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441193



Internal ID219675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147968895..147968953hg38UCSC Ensembl
chr2:148726464..148726522hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919042
Samples
Known GenesORC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441193
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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