A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14105355



Internal ID21291678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:239751589..239960757hg38UCSC Ensembl
Innerchr1:239914889..240124057hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38209169
hg19209169
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3118355
Supporting Variants
Samplessample78
Known GenesCHRM3, CHRM3-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14105355
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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