A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv902081



Internal ID6264008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73662629..73738042hg19UCSC Ensembl
Outerchr14:73631092..73741186hg19UCSC Ensembl
Innerchr14:72732382..72807795hg18UCSC Ensembl
Outerchr14:72700845..72810939hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1540466
SamplesMS14849
Known GenesPAPLN, PSEN1
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv902081
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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