A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15186325



Internal ID21325139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17659212..17659212hg38UCSC Ensembl
chr20:17639857..17639857hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3942029
Supporting Variants
SamplesHG002
Known GenesRRBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15186325
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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