A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv585828



Internal ID15467351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14790866..14958965hg38UCSC Ensembl
chr20:14771512..14939611hg19UCSC Ensembl
chr20:14719512..14887611hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38168100
hg19168100
hg18168100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv498967
Supporting Variants
Samples
Known GenesMACROD2, MACROD2-AS1
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)nssv585828
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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