A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14083468



Internal ID21267525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:48283778..49621276hg38UCSC Ensembl
Innerchr7:48323375..49660872hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg381337499
hg191337498
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3115657
Supporting Variants
Samplessample113
Known GenesABCA13, CDC14C
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14083468
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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