A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521943



Internal ID298218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28170339..28170497hg38UCSC Ensembl
chr17:26497365..26497523hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712334
Samples
Known GenesNLK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521943
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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