A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116772



Internal ID21300038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196758680..196832286hg38UCSC Ensembl
Innerchr1:196727810..196801416hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3873607
hg1973607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv98n145
Supporting Variantsnssv14094039, nssv14084565, nssv14105252, nssv14090346, nssv14098023, nssv14108296, nssv14084676, nssv14087667, nssv14093961, nssv14099551, nssv14085536
Samplessample379, sample196, sample202, sample88, sample58, sample287, sample364, sample197, sample331, sample166, sample321
Known GenesCFHR1, CFHR3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116772
Frequency
Sample Size467
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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