A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515278



Internal ID291761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18340996..18344427hg38UCSC Ensembl
chr17:18244310..18247741hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383432
hg193432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711903
Samples
Known GenesSHMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515278
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