A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117465



Internal ID21300731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234274308..234276827hg38UCSC Ensembl
Innerchr1:234410054..234412573hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382520
hg192520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv120n145
Supporting Variantsnssv14107984, nssv14093796
Samplessample304, sample92
Known GenesSLC35F3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117465
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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