A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499134



Internal ID15815230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55761681..55832004hg38UCSC Ensembl
chr16:55795593..55865916hg19UCSC Ensembl
chr16:54353094..54423417hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3870324
hg1970324
hg1870324
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585518
Samples
Known GenesCES1, CES1P1
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)nsv499134
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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