A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv878347



Internal ID6285358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1304161..1834422hg19UCSC Ensembl
Outerchr4:1300077..1866358hg19UCSC Ensembl
Innerchr4:1294161..1804220hg18UCSC Ensembl
Outerchr4:1290077..1836156hg18UCSC 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 Variantsnssv1585823
SamplesIS37646
Known GenesCRIPAK, FAM53A, FGFR3, KIAA1530, LETM1, MAEA, SLBP, TACC3, TMEM129
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv878347
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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