A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5584004



Internal ID21532537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229900689..229900782hg38UCSC Ensembl
chr1:230036436..230036529hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063236
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5584004
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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