A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17416916



Internal ID22474786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103557280..103557280hg38UCSC Ensembl
chr5:102892981..102892981hg19UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5948903
Supporting Variants
Samples
Known GenesNUDT12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17416916
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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