A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521918



Internal ID298195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47068640..47149806hg38UCSC Ensembl
chr17:45146006..45227172hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3881167
hg1981167
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713473
Samples
Known GenesCDC27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521918
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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