A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4553



Internal ID15549274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:152323453..152349980hg38UCSC Ensembl
Outerchr4:153244605..153271132hg19UCSC Ensembl
Outerchr4:153464055..153490582hg18UCSC Ensembl
Outerchr4:153602210..153628737hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg388202
hg198202
hg188202
hg178202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2486
SamplesNA18555
Known GenesDEAR, FBXW7
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv4553
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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