A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3015141



Internal ID15221826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48746509..48746509hg38UCSC Ensembl
chr17:46823871..46823871hg19UCSC Ensembl
chr17:44178870..44178870hg18UCSC Ensembl
chr17:44178870..44178870hg17UCSC Ensembl
Cytoband17q21.32
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 Variantsnsv475461
Supporting Variants
SamplesNA19240
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)nssv3015141
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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