A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984182



Internal ID21893525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48382509..48382681hg38UCSC Ensembl
chr1:48848181..48848353hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532953
Samples
Known GenesSPATA6
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984182
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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