A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5893429



Internal ID22668489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179737781..179737862hg38UCSC Ensembl
chr5:179164782..179164863hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17416885
Samples
Known GenesMAML1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5893429
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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