A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv498745



Internal ID15814841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:131110795..131114521hg38UCSC Ensembl
chr10:132909058..132912784hg19UCSC Ensembl
chr10:132799048..132802774hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg383727
hg193727
hg183727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv586373
Samples
Known GenesTCERG1L
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)nsv498745
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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