A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9530



Internal ID15847442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27017423..27024504hg38UCSC Ensembl
Outerchr17:25344449..25351530hg19UCSC Ensembl
Outerchr17:22368576..22375657hg18UCSC Ensembl
Outerchr17:22368576..22375657hg17UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg387082
hg197082
hg187082
hg177082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26840
SamplesNA19132
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv9530
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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