A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982796



Internal ID21892139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217739774..217789300hg38UCSC Ensembl
chr1:217913116..217962642hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3849527
hg1949527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17521384
Samples
Known GenesSPATA17
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982796
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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