A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1n47



Internal ID18992046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2553995..2567688hg38UCSC Ensembl
chr1:2485434..2499127hg19UCSC Ensembl
chr1:2474521..2489757hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3813694
hg1913694
hg1815237
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv499637, nsv499569, nsv499113
Samples
Known GenesLOC100133445, TNFRSF14
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)dgv1n47
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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