A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871462



Internal ID22646400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224165949..224167022hg38UCSC Ensembl
chr1:224353651..224354724hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg381074
hg191074
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365361
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871462
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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