A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv475172



Internal ID15574605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:69040059..69040059hg38UCSC Ensembl
chrX:68259902..68259902hg19UCSC Ensembl
chrX:68176627..68176627hg18UCSC Ensembl
chrX:68042923..68042923hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3013495
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)nsv475172
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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