A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14109452



Internal ID21283762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179730972..179733870hg38UCSC Ensembl
Innerchr5:179157973..179160871hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382899
hg192899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3113888
Supporting Variants
Samplessample349
Known GenesCANX, MAML1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14109452
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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