A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894722



Internal ID22669797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1060923..1061156hg38UCSC Ensembl
chr5:1061038..1061271hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17415492
Samples
Known GenesSLC12A7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894722
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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