A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4474



Internal ID15549187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:113559792..113582376hg38UCSC Ensembl
Outerchr4:114480948..114503532hg19UCSC Ensembl
Outerchr4:114700397..114722981hg18UCSC Ensembl
Outerchr4:114838552..114861136hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3816847
hg1916847
hg1816847
hg1716847
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7114
SamplesNA12156
Known GenesCAMK2D
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)nsv4474
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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