A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv473159



Internal ID15225906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39650475..39650475hg38UCSC Ensembl
chr17:37806728..37806728hg19UCSC Ensembl
chr17:35060254..35060254hg18UCSC Ensembl
chr17:35060254..35060254hg17UCSC Ensembl
Cytoband17q12
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 Variantsnssv3015522
SamplesNA19129
Known GenesSTARD3
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)nsv473159
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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