A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2924201



Internal ID15774177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69525761..69558721hg38UCSC Ensembl
Innerchr5:68821588..68854548hg19UCSC Ensembl
Innerchr5:68857344..68890304hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3832961
hg1932961
hg1832961
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514309
Supporting Variants
SamplesNA20357
Known GenesLOC647859, OCLN, SMA4
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2924201
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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