A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421566



Internal ID200633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6089251..6089302hg38UCSC Ensembl
chr17:5992571..5992622hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711093
Samples
Known GenesWSCD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421566
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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