A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv474350



Internal ID15227100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:155133228..155133228hg38UCSC Ensembl
chr3:154851017..154851017hg19UCSC Ensembl
chr3:156333711..156333711hg18UCSC Ensembl
chr3:156333719..156333719hg17UCSC Ensembl
Cytoband3q25.2
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 Variantsnssv3015214
SamplesNA18507
Known GenesMME
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)nsv474350
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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