A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948903



Internal ID22724365
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 StatusM
Merged Variants
Supporting Variantsnssv17416916
Samples
Known GenesNUDT12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948903
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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