A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5928046



Internal ID22703281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65642419..65643148hg38UCSC Ensembl
chr17:63638537..63639266hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377482
Samples
Known GenesCEP112
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5928046
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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