A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976211



Internal ID22751146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:108131354..108131354hg38UCSC Ensembl
chr11:108002081..108002081hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360219
Samples
Known GenesACAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976211
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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