A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3016198



Internal ID15563486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222080014..222080014hg38UCSC Ensembl
chr1:222253356..222253356hg19UCSC Ensembl
chr1:220319979..220319979hg18UCSC Ensembl
chr1:218641751..218641751hg17UCSC Ensembl
Cytoband1q41
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 Variantsnsv478954
Supporting Variants
SamplesNA18507
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)nssv3016198
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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