A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499114



Internal ID8782189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16845343..18427390hg38UCSC Ensembl
chr17:16748657..18330704hg19UCSC Ensembl
chr17:16689382..18271429hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381582048
hg191582048
hg181582048
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585522
Samples
Known GenesALKBH5, ATPAF2, COPS3, DRG2, EVPLL, FLCN, FLII, FLJ35934, GID4, LLGL1, LOC339240, LRRC48, MED9, MIEF2, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, RAI1, RASD1, SHMT1, SMCR5, SMCR8, SMCR9, SREBF1, TNFRSF13B, TOM1L2, TOP3A
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)nsv499114
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer