A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499808



Internal ID15469168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:71338658..71606247hg38UCSC Ensembl
chr6:72048361..72315950hg19UCSC Ensembl
chr6:72105082..72372671hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38267590
hg19267590
hg18267590
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585558
Samples
Known GenesLINC00472, MIR30A, MIR30C2
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)nsv499808
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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