A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647591



Internal ID21595896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105940351..105940351hg38UCSC Ensembl
chr12:106334129..106334129hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077072
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647591
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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