A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv498770



Internal ID15468130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106915511..106918845hg38UCSC Ensembl
chr11:106786237..106789571hg19UCSC Ensembl
chr11:106291447..106294781hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg383335
hg193335
hg183335
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585553
Samples
Known GenesGUCY1A2
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)nsv498770
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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