A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5583219



Internal ID21531741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38752111..38752343hg38UCSC Ensembl
chr6:38719887..38720119hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17154686
SamplesNA19238
Known GenesDNAH8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5583219
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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