A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4533



Internal ID15549252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143649507..143684719hg38UCSC Ensembl
Outerchr4:144570660..144605872hg19UCSC Ensembl
Outerchr4:144790110..144825322hg18UCSC Ensembl
Outerchr4:144928265..144963477hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg384504
hg194504
hg184504
hg174504
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3290
SamplesNA12878
Known GenesFREM3
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)nsv4533
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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