A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439647



Internal ID218182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120484914..121067963hg38UCSC Ensembl
chr2:121242490..121825539hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38583050
hg19583050
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919837
Samples
Known GenesGLI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439647
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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