A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5579659



Internal ID21528140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223748661..223748711hg38UCSC Ensembl
chr1:223936363..223936413hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063437
SamplesHG03486
Known GenesCAPN2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5579659
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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