A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv498736



Internal ID15814832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:87224437..87358189hg38UCSC Ensembl
chr10:88984194..89117946hg19UCSC Ensembl
chr10:88974174..89107926hg18UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38133753
hg19133753
hg18133753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv586274
Samples
Known GenesLOC439994, NUTM2A, NUTM2A-AS1, NUTM2D
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)nsv498736
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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