A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980785



Internal ID21890128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118176652..118178470hg38UCSC Ensembl
chr1:118719275..118721093hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg381819
hg191819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17524477
Samples
Known GenesSPAG17
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5980785
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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