A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520921



Internal ID297228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51150447..51157577hg38UCSC Ensembl
chr17:49227808..49234938hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg387131
hg197131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713590
Samples
Known GenesNME1, NME1-NME2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520921
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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