A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5619226



Internal ID21567531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114907011..114907011hg38UCSC Ensembl
chr1:115449632..115449632hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17059792
SamplesNA18939
Known GenesSYCP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5619226
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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