A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv498670



Internal ID15469197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50063026..50076230hg38UCSC Ensembl
chr1:50528698..50541902hg19UCSC Ensembl
chr1:50301285..50314489hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3813205
hg1913205
hg1813205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv585453
Samples
Known GenesELAVL4
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)nsv498670
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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