A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv473902



Internal ID15573335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113860777..113860777hg38UCSC Ensembl
chr1:114403399..114403399hg19UCSC Ensembl
chr1:114204922..114204922hg18UCSC Ensembl
chr1:114115441..114115441hg17UCSC Ensembl
Cytoband1p13.2
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 Variantsnssv3014960
SamplesNA12156
Known GenesAP4B1-AS1, PTPN22
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)nsv473902
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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