A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5589491



Internal ID21538054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10093385..10094604hg38UCSC Ensembl
chr12:10245984..10247203hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381220
hg191220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077032
SamplesHG03009
Known GenesCLEC1A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5589491
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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