A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499166



Internal ID15468526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:131680790..131681886hg38UCSC Ensembl
chr11:131550684..131551780hg19UCSC Ensembl
chr11:131055894..131056990hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg381097
hg191097
hg181097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585604
Samples
Known GenesNTM
MethodSequencing
AnalysisFor each individuals we constructed a whole genomic library of approximately 1 million clones using a fosdmid subcloning strategy Paried end sequences from each clone were sequenced and searched against NCBI build35. Individual fosmid clones corresponding to regions of structural difference relative to the genome reference were selected and sequenced. The breakpoints determined from complete fosmid sequencing are given using the NCBI build36 genome assembly.
PlatformCapillary
Comments
ReferenceKidd_et_al_2010b
Pubmed ID21111241
Accession Number(s)nsv499166
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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