A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17118179



Internal ID21505436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:8597194..8597194hg38UCSC Ensembl
chr20:8577841..8577841hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5665098
Supporting Variants
SamplesNA19650
Known GenesPLCB1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17118179
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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