A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5573900



Internal ID21522309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196830121..196830176hg38UCSC Ensembl
chr1:196799251..196799306hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062076
SamplesHG03732
Known GenesCFHR1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5573900
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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