A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv498705



Internal ID15469232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207534533..207572360hg38UCSC Ensembl
chr1:207707878..207745705hg19UCSC Ensembl
chr1:205774501..205812328hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3837828
hg1937828
hg1837828
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5n47
Supporting Variantsnssv585420
Samples
Known GenesCR1
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)nsv498705
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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