A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1950



Internal ID15194547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:90257783..90262503hg38UCSC Ensembl
Outerchr11:89990951..89995671hg19UCSC Ensembl
Outerchr11:89630599..89635319hg18UCSC Ensembl
Outerchr11:89630599..89635319hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3830236
hg1930236
hg1830236
hg1730236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv427
Supporting Variants
SamplesNA18555
Known GenesDISC1FP1
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)nssv1950
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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