A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5893294



Internal ID22668353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151278303..151278364hg38UCSC Ensembl
chr5:150657864..150657925hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424698
Samples
Known GenesSLC36A3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5893294
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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