A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435529



Internal ID214172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17769533..17769595hg38UCSC Ensembl
chr2:17950800..17950862hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910172
Samples
Known GenesGEN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435529
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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