A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516135



Internal ID292600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4066638..4066755hg38UCSC Ensembl
chr17:3969932..3970049hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710468
Samples
Known GenesZZEF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516135
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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