A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3017338



Internal ID15217662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35767840..35767840hg38UCSC Ensembl
chr22:36163887..36163887hg19UCSC Ensembl
chr22:34493833..34493833hg18UCSC Ensembl
chr22:34488387..34488387hg17UCSC Ensembl
Cytoband22q12.3
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 Variantsnsv478317
Supporting Variants
SamplesNA18507
Known GenesRBFOX2
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)nssv3017338
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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