A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv909645



Internal ID6271572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:48560325..48746375hg19UCSC Ensembl
Outerchr18:48549945..48761626hg19UCSC Ensembl
Innerchr18:46814323..47000373hg18UCSC Ensembl
Outerchr18:46803943..47015624hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1548802
SamplesMS17878
Known GenesMEX3C, SMAD4
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv909645
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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