A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499710



Internal ID15815806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:51682585..51725217hg38UCSC Ensembl
chrX:51425518..51468313hg19UCSC Ensembl
chrX:51442258..51485053hg18UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3842633
hg1942796
hg1842796
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585581
Samples
Known GenesCENPVP1, CENPVP2
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)nsv499710
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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