A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417846



Internal ID197033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64566143..64566194hg38UCSC Ensembl
chr17:62562261..62562312hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714076
Samples
Known GenesSMURF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417846
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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