A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1484



Internal ID15546047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:33728864..33745928hg38UCSC Ensembl
Outerchr15:34021065..34038129hg19UCSC Ensembl
Outerchr15:31808357..31825421hg18UCSC Ensembl
Outerchr15:31808357..31825421hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg385870
hg195870
hg185870
hg175870
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5547, nssv4144
SamplesNA12878, NA19129
Known GenesRYR3
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)nsv1484
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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