A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv878417



Internal ID6285428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1799302..1807272hg19UCSC Ensembl
Outerchr4:1797852..1807894hg19UCSC Ensembl
Innerchr4:1769100..1777070hg18UCSC Ensembl
Outerchr4:1767650..1777692hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1509013
SamplesSP54591
Known GenesFGFR3
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv878417
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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