A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499595



Internal ID15468955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88712947..88713164hg38UCSC Ensembl
chr16:88779355..88779572hg19UCSC Ensembl
chr16:87306856..87307073hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38218
hg19218
hg18218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv586283
Samples
Known GenesCTU2
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)nsv499595
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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