A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17403048



Internal ID22460918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39038732..39038732hg38UCSC Ensembl
chr2:39265873..39265873hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5956888
Supporting Variants
Samples
Known GenesSOS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17403048
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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