A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499039



Internal ID15815135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:30817591..30828520hg38UCSC Ensembl
chr4:30819213..30830142hg19UCSC Ensembl
chr4:30428311..30439240hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3810930
hg1910930
hg1810930
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585900
Samples
Known GenesPCDH7
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)nsv499039
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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