A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14097777



Internal ID21285344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227314608..227321464hg38UCSC Ensembl
Innerchr1:227502309..227509165hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg386857
hg196857
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3112066
Supporting Variants
Samplessample372
Known GenesCDC42BPA
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14097777
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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