A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115600



Internal ID21298866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:67831601..67835699hg38UCSC Ensembl
Innerchr1:68297284..68301382hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg384099
hg194099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14099174
Samplessample360
Known GenesGNG12, GNG12-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115600
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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