A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv901981



Internal ID6263908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:57257570..57284633hg19UCSC Ensembl
Outerchr14:57250274..57288596hg19UCSC Ensembl
Innerchr14:56327323..56354386hg18UCSC Ensembl
Outerchr14:56320027..56358349hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv1510072, nssv1510888
SamplesSP54956, SP54988
Known GenesOTX2, OTX2OS1
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv901981
Frequency
Sample Size6533
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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