A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv498746



Internal ID15468106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133424789..133570085hg38UCSC Ensembl
chr10:135238293..135383589hg19UCSC Ensembl
chr10:135088283..135233579hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38145297
hg19145297
hg18145297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv586384
Samples
Known GenesCYP2E1, SCART1, SPRNP1, SYCE1
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)nsv498746
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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