A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5564945



Internal ID21513253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229774772..229774842hg38UCSC Ensembl
chr1:229910519..229910589hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063233
SamplesNA12878
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5564945
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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