A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5606442



Internal ID21554747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156895955..156895955hg38UCSC Ensembl
chr1:156865747..156865747hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381916
hg191916
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061193
SamplesNA20509
Known GenesPEAR1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5606442
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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