A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543599



Internal ID317834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40220627..40220652hg38UCSC Ensembl
chr17:38376879..38376904hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713087
Samples
Known GenesWIPF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543599
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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