A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9596



Internal ID15847508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80113007..80118021hg38UCSC Ensembl
Outerchr17:78086806..78091820hg19UCSC Ensembl
Outerchr17:75701401..75706415hg18UCSC Ensembl
Outerchr17:75701401..75706415hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385015
hg195015
hg185015
hg175015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24129, nssv23614, nssv27194
SamplesNA18563, NA18975, NA18972
Known GenesGAA
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)nsv9596
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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