A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv901493



Internal ID6263420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23778698..23882855hg19UCSC Ensembl
Outerchr14:23766591..23890982hg19UCSC Ensembl
Innerchr14:22848538..22952695hg18UCSC Ensembl
Outerchr14:22836431..22960822hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1546845
SamplesMS17208
Known GenesBCL2L2, BCL2L2-PABPN1, CMTM5, EFS, IL25, MIR208A, MIR208B, MYH6, MYH7, PABPN1, PPP1R3E, SLC22A17
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv901493
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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