A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3015664



Internal ID15224244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42992410..42992410hg38UCSC Ensembl
chr8:42847553..42847553hg19UCSC Ensembl
chr8:42966710..42966710hg18UCSC Ensembl
chr8:42966710..42966710hg17UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv480663
Supporting Variants
Samples
Known GenesHOOK3
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)nssv3015664
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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