A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5983225



Internal ID21892568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243482779..243486863hg38UCSC Ensembl
chr1:243646081..243650165hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg384085
hg194085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529761
Samples
Known GenesSDCCAG8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5983225
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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