A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984177



Internal ID21893520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47335378..47335536hg38UCSC Ensembl
chr1:47801050..47801208hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17524890
Samples
Known GenesCMPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984177
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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