A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974914



Internal ID22749849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:93535787..93535787hg38UCSC Ensembl
chr11:93268953..93268953hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361858
Samples
Known GenesSMCO4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974914
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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