A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3017706



Internal ID15218115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40470397..40470397hg38UCSC Ensembl
chr19:40976304..40976304hg19UCSC Ensembl
chr19:45668144..45668144hg18UCSC Ensembl
chr19:45668144..45668144hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv477924
Supporting Variants
SamplesNA18517
Known GenesSPTBN4
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)nssv3017706
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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