A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578235



Internal ID21526699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83338951..83341953hg38UCSC Ensembl
chr1:83804634..83807636hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383003
hg193003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17067007
SamplesHG02818
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578235
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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