A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514890



Internal ID291378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1599521..1603631hg38UCSC Ensembl
chr17:1502815..1506925hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg384111
hg194111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710828
Samples
Known GenesSLC43A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514890
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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