A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5574479



Internal ID21522895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40548198..40548277hg38UCSC Ensembl
chr5:40548300..40548379hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17130961
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5574479
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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