A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv586054



Internal ID15814263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142786217..142797458hg38UCSC Ensembl
chr7:142194029..142205270hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3811242
hg1811242
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv499611
Supporting Variants
Samples
Known Genes
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)nssv586054
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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