A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594864



Internal ID21543464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32253800..32253851hg38UCSC Ensembl
chr12:32406734..32406785hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17094942
SamplesNA19239
Known GenesBICD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594864
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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