A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17417052



Internal ID22474922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128441592..128441592hg38UCSC Ensembl
chr4:129362747..129362747hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5954413
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17417052
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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