A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578444



Internal ID21526912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:487332..487384hg38UCSC Ensembl
chr5:487447..487499hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17122932
SamplesHG00732
Known GenesSLC9A3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578444
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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