A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878126



Internal ID22653090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4531841..4544517hg38UCSC Ensembl
chr17:4435136..4447812hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3812677
hg1912677
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17478778
Samples
Known GenesMYBBP1A, SPNS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878126
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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