A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15706147



Internal ID21378423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31292450..31292580hg38UCSC Ensembl
chr17:29619468..29619598hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4391761
Supporting Variants
Samples
Known GenesNF1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15706147
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0316092


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