A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514275



Internal ID290774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63736527..63737173hg38UCSC Ensembl
chr17:61813887..61814533hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38647
hg19647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714018
Samples
Known GenesSTRADA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514275
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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