A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5657909



Internal ID21606214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130959204..130959204hg38UCSC Ensembl
chr12:131443749..131443749hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17078317
SamplesHG00514
Known GenesGPR133
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5657909
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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