A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499114



Internal ID6088609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16748657..18330704hg19UCSC Ensembl
chr17:16689382..18271429hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeOTHER Inversion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv585522
Samples
Known GenesALKBH5, ATPAF2, C17orf39, COPS3, DRG2, EVPLL, FLCN, FLII, LLGL1, LOC339240, LRRC48, MED9, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, RAI1, RASD1, SHMT1, SMCR5, SMCR7, SMCR8, SMCR9, SREBF1, TNFRSF13B, TOM1L2, TOP3A
Method
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)nsv499114
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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