A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3118255



Internal ID21301521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196758680..196827269hg38UCSC Ensembl
Innerchr1:196727810..196796399hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3868590
hg1968590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv98n145
Supporting Variantsnssv14083622
Samplessample157
Known GenesCFHR1, CFHR3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3118255
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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