A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3118252



Internal ID21301518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:181084504..181091816hg38UCSC Ensembl
Innerchr1:181053640..181060952hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg387313
hg197313
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14083451
Samplessample189
Known GenesIER5
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3118252
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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