A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv585554



Internal ID15467079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:158351287..158353680hg38UCSC Ensembl
chr5:157778295..157780688hg19UCSC Ensembl
chr5:157710873..157713266hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382394
hg192394
hg182394
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv499790
Supporting Variants
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)nssv585554
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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