A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4391797



Internal ID21382827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42670098..42670345hg38UCSC Ensembl
chr17:40822116..40822363hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15706165
Samples
Known GenesPLEKHH3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4391797
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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