A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570378



Internal ID21518743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196757583..196842265hg38UCSC Ensembl
chr1:196726713..196811395hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3884683
hg1984683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062070
SamplesNA19239
Known GenesCFHR1, CFHR3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570378
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