A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv479571



Internal ID15232311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19407805..19407805hg38UCSC Ensembl
chr22:19395328..19395328hg19UCSC Ensembl
chr22:17775328..17775328hg18UCSC Ensembl
chr22:17769882..17769882hg17UCSC Ensembl
Cytoband22q11.21
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 Variantsnssv3013086
Samples
Known GenesHIRA
MethodSequencing
Analysis
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA contig. The coordinate provided is from the mappable end of a contig assembled from multiple read pairs, and indicates the genomic vicinity of a novel sequence insertion.
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nsv479571
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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