A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956387



Internal ID22731578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221920217..221920217hg38UCSC Ensembl
chr1:222093559..222093559hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351098
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956387
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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