A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5573901



Internal ID21522310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158637470..158637593hg38UCSC Ensembl
chr1:158607260..158607383hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17060980
SamplesNA19238
Known GenesSPTA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5573901
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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