A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv474520



Internal ID15227270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47382314..47382314hg38UCSC Ensembl
chr19:47885571..47885571hg19UCSC Ensembl
chr19:52577405..52577405hg18UCSC Ensembl
chr19:52577405..52577405hg17UCSC Ensembl
Cytoband19q13.32
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 Variantsnssv3017033
SamplesNA18956
Known GenesDHX34
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)nsv474520
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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