A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17408000



Internal ID22465870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178096168..178096168hg38UCSC Ensembl
chr2:178960895..178960895hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5951653
Supporting Variants
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17408000
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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