A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393358



Internal ID22451228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128065644..128123905hg38UCSC Ensembl
chr2:128823218..128881479hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3858262
hg1958262
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5892372
Supporting Variants
Samples
Known GenesUGGT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393358
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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