A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522325



Internal ID298595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41755842..41755929hg38UCSC Ensembl
chr17:39912094..39912181hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713204
Samples
Known GenesJUP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522325
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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