A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5618319



Internal ID21566624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7803433..7803433hg38UCSC Ensembl
chr1:7863493..7863493hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17066446
SamplesHG00732
Known GenesPER3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5618319
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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