A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14100605



Internal ID21277567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:57795634..57863634hg38UCSC Ensembl
Innerchr19:58307002..58375002hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3868001
hg1968001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3111693
Supporting Variants
Samplessample253
Known GenesFKBP1AP1, ZNF552, ZNF587, ZNF587B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14100605
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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