A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517138



Internal ID293567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1575234..1575310hg38UCSC Ensembl
chr17:1478528..1478604hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710822
Samples
Known GenesSLC43A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517138
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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