A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3012279



Internal ID15223195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85093855..85093855hg38UCSC Ensembl
chr8:86006090..86006090hg19UCSC Ensembl
chr8:86193342..86193342hg18UCSC Ensembl
chr8:86193342..86193342hg17UCSC Ensembl
Cytoband8q21.2
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 Variantsnsv479249
Supporting Variants
Samples
Known Genes
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)nssv3012279
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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