A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499795



Internal ID6088715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126737635..129741355hg19UCSC Ensembl
chr8:126806817..129810537hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeOTHER Inversion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv585571
Samples
Known GenesFAM84B, LOC100130231, LOC727677, MIR1204, MIR1205, MIR1206, MIR1207, MIR1208, MYC, POU5F1B, PVT1
Method
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)nsv499795
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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