A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713590



Internal ID137256
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 StatusS
Merged Variantsnsv5520921
Supporting Variants
Samples
Known GenesNME1, NME1-NME2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713590
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer