A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5583176



Internal ID21531697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117430354..117430433hg38UCSC Ensembl
chr1:117972976..117973055hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17059808
SamplesHG03732
Known GenesMAN1A2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5583176
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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