A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5651249



Internal ID21599554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32024126..32024126hg38UCSC Ensembl
chr18:29604089..29604089hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg382386
hg192386
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17101099
SamplesHG02587
Known GenesRNF125
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5651249
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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