A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5610681



Internal ID21558986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:141017412..141017412hg38UCSC Ensembl
chr2:141774981..141774981hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38845
hg19845
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109318
SamplesHG00513
Known GenesLRP1B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5610681
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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