A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv502



Internal ID15549787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:115302112..115333485hg38UCSC Ensembl
Outerchr11:115172832..115204204hg19UCSC Ensembl
Outerchr11:114678042..114709414hg18UCSC Ensembl
Outerchr11:114678042..114709414hg17UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg387910
hg197910
hg187910
hg177910
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5379
SamplesNA19129
Known GenesCADM1
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)nsv502
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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