A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984491



Internal ID21893834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47247950..47264415hg38UCSC Ensembl
chr1:47713622..47730087hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3816466
hg1916466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17531214
Samples
Known GenesSTIL
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984491
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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