A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv498963



Internal ID15815059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1580345..1613615hg38UCSC Ensembl
chr20:1560991..1594261hg19UCSC Ensembl
chr20:1508991..1542261hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3833271
hg1933271
hg1833271
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv33n47
Supporting Variantsnssv585824
Samples
Known GenesSIRPB1
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)nsv498963
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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