A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113606



Internal ID21296872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196758680..196851756hg38UCSC Ensembl
Innerchr1:196727810..196820886hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3893077
hg1993077
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv99n145
Supporting Variantsnssv14083195, nssv14090402
Samplessample17, sample112
Known GenesCFHR1, CFHR3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113606
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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