A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5604189



Internal ID21552856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57873385..57873438hg38UCSC Ensembl
chr12:58267168..58267221hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17083882
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5604189
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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