A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499753



Internal ID15815849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79821641..79840521hg38UCSC Ensembl
chr13:80395776..80414656hg19UCSC Ensembl
chr13:79293777..79312657hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3818881
hg1918881
hg1818881
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv18n47
Supporting Variantsnssv585506
Samples
Known Genes
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)nsv499753
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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