A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984595



Internal ID21893938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48340805..48349305hg38UCSC Ensembl
chr1:48806477..48814977hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg388501
hg198501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536866
Samples
Known GenesSPATA6
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984595
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