A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5603118



Internal ID21551780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75942182..75942359hg38UCSC Ensembl
chr12:76335962..76336139hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17093379
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5603118
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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