A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5611812



Internal ID21560117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130465664..130465664hg38UCSC Ensembl
chr2:131223237..131223237hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109056
SamplesHG03371
Known GenesPOTEI
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5611812
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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