A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5649513



Internal ID21597818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102461467..102461467hg38UCSC Ensembl
chr12:102855245..102855245hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17076495
SamplesNA12878
Known GenesIGF1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5649513
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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