A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv585489



Internal ID15467014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149843512..149871315hg38UCSC Ensembl
chr1:149815079..149842862hg19UCSC Ensembl
chr1:148081703..148109486hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3827804
hg1927784
hg1827784
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv499132
Supporting Variants
Samples
Known GenesHIST2H2AA3, HIST2H2AA4, HIST2H2BC, HIST2H3A, HIST2H3C, HIST2H4A, HIST2H4B
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)nssv585489
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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