A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724621



Internal ID148287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49054504..49054736hg38UCSC Ensembl
chr17:47131866..47132098hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531219
Supporting Variants
Samples
Known GenesIGF2BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724621
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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