A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv996



Internal ID15198177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:18671369..18703362hg38UCSC Ensembl
Outerchr11:18692916..18724909hg19UCSC Ensembl
Outerchr11:18649492..18681485hg18UCSC Ensembl
Outerchr11:18649492..18681485hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg389002
hg199002
hg189002
hg179002
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7696
Supporting Variants
SamplesNA19240
Known GenesTMEM86A
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)nssv996
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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