A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533018



Internal ID308916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1594120..1594823hg38UCSC Ensembl
chr17:1497414..1498117hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710825
Samples
Known GenesSLC43A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533018
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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