A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520804



Internal ID297116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29951557..29964591hg38UCSC Ensembl
chr17:28278575..28291609hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3813035
hg1913035
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712454
Samples
Known GenesEFCAB5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520804
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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