A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523850



Internal ID300068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28636742..28636906hg38UCSC Ensembl
chr17:26963760..26963924hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712371
Samples
Known GenesKIAA0100
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523850
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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