A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1266



Internal ID15545829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:47290256..47314220hg38UCSC Ensembl
Outerchr14:47759459..47783423hg19UCSC Ensembl
Outerchr14:46829209..46853173hg18UCSC Ensembl
Outerchr14:46829209..46853173hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg387494
hg197494
hg187494
hg177494
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10015
SamplesNA18956
Known GenesMDGA2
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)nsv1266
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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