A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3110173



Internal ID21293439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196758680..196844127hg38UCSC Ensembl
Innerchr1:196727810..196813257hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3885448
hg1985448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv99n145
Supporting Variantsnssv14107750, nssv14082785, nssv14104286
Samplessample90, sample73, sample155
Known GenesCFHR1, CFHR3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3110173
Frequency
Sample Size467
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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