A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519170



Internal ID295526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18920402..19018426hg38UCSC Ensembl
chr17:18823715..18921739hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3898025
hg1998025
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711975
Samples
Known GenesFAM83G, PRPSAP2, SLC5A10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519170
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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