A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578550



Internal ID21527020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40263034..40263097hg38UCSC Ensembl
chr5:40263136..40263199hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17126202
SamplesHG03125
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578550
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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