A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517243



Internal ID293669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43648672..43650386hg38UCSC Ensembl
chr17:41726040..41727754hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381715
hg191715
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713255
Samples
Known GenesMEOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517243
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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