A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499822



Internal ID15815918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47303501..47317337hg38UCSC Ensembl
chr8:48214764..48231683hg19UCSC Ensembl
chr8:48377317..48394236hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3813837
hg1916920
hg1816920
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv57n47
Supporting Variantsnssv585569
Samples
Known GenesSPIDR
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)nsv499822
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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