A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17416739



Internal ID22474609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179748397..179748397hg38UCSC Ensembl
chr5:179175398..179175398hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5955677
Supporting Variants
Samples
Known GenesMAML1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17416739
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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