A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978587



Internal ID22753523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33261011..33261011hg38UCSC Ensembl
chr21:34633316..34633316hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407720
Samples
Known GenesIFNAR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978587
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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