A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4316



Internal ID15549013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:44047657..44103185hg38UCSC Ensembl
Outerchr4:44049674..44105202hg19UCSC Ensembl
Outerchr4:43744431..43799959hg18UCSC Ensembl
Outerchr4:43890602..43946130hg17UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg385452
hg195452
hg185452
hg175452
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7947, nssv3127
SamplesNA12156, NA18555
Known Genes
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)nsv4316
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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