A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5653159



Internal ID21601464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46975842..46975842hg38UCSC Ensembl
chr12:47369625..47369625hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17084571
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5653159
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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