A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4731992



Internal ID20507914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51072203..51072273hg38UCSC Ensembl
chr17:49149564..49149634hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266870
Samples
Known GenesSPAG9
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4731992
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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