A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499095



Internal ID15815191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179637308..179655267hg38UCSC Ensembl
chr5:179064309..179082268hg19UCSC Ensembl
chr5:178996915..179014874hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3817960
hg1917960
hg1817960
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585556
Samples
Known GenesC5orf60
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)nsv499095
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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