A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5650802



Internal ID21599107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47940860..47940860hg38UCSC Ensembl
chr12:48334643..48334643hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17082324, nssv17083606
SamplesHG01114, HG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5650802
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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