A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv330



Internal ID15201209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58723172..58756045hg38UCSC Ensembl
Outerchr11:58490645..58523518hg19UCSC Ensembl
Outerchr11:58247221..58280094hg18UCSC Ensembl
Outerchr11:58247221..58280094hg17UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg386830
hg196830
hg186830
hg176830
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955
SamplesNA12878
Known GenesGLYAT
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)nsv330
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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