A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv902254



Internal ID6264181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:102345693..102419587hg19UCSC Ensembl
Outerchr14:102343173..102446161hg19UCSC Ensembl
Innerchr14:101415446..101489340hg18UCSC Ensembl
Outerchr14:101412926..101515914hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1530792
SamplesMS10311
Known GenesDYNC1H1, PPP2R5C
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv902254
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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