A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv498987



Internal ID15468347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38962275..38992562hg38UCSC Ensembl
chr22:39358280..39388567hg19UCSC Ensembl
chr22:37688226..37718513hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3830288
hg1930288
hg1830288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv36n47
Supporting Variantsnssv585848
Samples
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1
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)nsv498987
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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