A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499766



Internal ID15469126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:7453859..9761729hg38UCSC Ensembl
chr11:7475090..9783276hg19UCSC Ensembl
chr11:7431666..9739852hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg382307871
hg192308187
hg182308187
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585495
Samples
Known GenesAKIP1, ASCL3, C11orf16, CYB5R2, DENND5A, EIF3F, IPO7, KRT8P41, LMO1, LOC100506258, LOC283299, LOC440028, LOC644656, MIR5691, NLRP10, NRIP3, OLFML1, OR10A3, OR10A6, OR5E1P, OR5P2, OR5P3, OVCH2, PPFIBP2, RIC3, RPL27A, SBF2-AS1, SCUBE2, SNORA23, SNORA3, SNORA45, ST5, STK33, SWAP70, SYT9, TMEM41B, TMEM9B, TMEM9B-AS1, TRIM66, TUB, WEE1, ZNF143
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)nsv499766
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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