A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578309



Internal ID21526775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116535542..116535862hg38UCSC Ensembl
chr1:117078164..117078484hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17060133
SamplesHG00512
Known GenesCD58
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578309
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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