A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3015482



Internal ID15561566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244261026..244261026hg38UCSC Ensembl
chr1:244424328..244424328hg19UCSC Ensembl
chr1:242490951..242490951hg18UCSC Ensembl
chr1:240750369..240750369hg17UCSC Ensembl
Cytoband1q44
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 Variantsnsv473969
Supporting Variants
SamplesNA12156
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)nssv3015482
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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