A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6027076



Internal ID21936419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28594272..28601775hg38UCSC Ensembl
chr17:26921290..26928793hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg387504
hg197504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17633204
Samples
Known GenesSPAG5, SPAG5-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6027076
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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