A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv472931



Internal ID15225675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138286219..138286219hg38UCSC Ensembl
chr5:137621908..137621908hg19UCSC Ensembl
chr5:137649807..137649807hg18UCSC Ensembl
chr5:137649807..137649807hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3019618
SamplesNA19129
Known GenesCDC25C
MethodSequencing
AnalysisSearch fosmid ESPs as described in Tuzun et al (2005)
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA singleton. The coordinate provided is from the mappable member of a fosmid end sequence pair, and indicates the genomic vicinity of a novel sequence insertion
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nsv472931
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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