A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv474553



Internal ID15227303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88259087..88259087hg38UCSC Ensembl
chr4:89180239..89180239hg19UCSC Ensembl
chr4:89399263..89399263hg18UCSC Ensembl
chr4:89537418..89537418hg17UCSC Ensembl
Cytoband4q22.1
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 Variantsnssv3017825
SamplesNA18956
Known GenesPPM1K
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)nsv474553
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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