A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9579



Internal ID15500805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60081156..60159528hg38UCSC Ensembl
Outerchr17:58158517..58236889hg19UCSC Ensembl
Outerchr17:55513299..55591671hg18UCSC Ensembl
Outerchr17:55513299..55591671hg17UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3878373
hg1978373
hg1878373
hg1778373
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26447, nssv26432, nssv24078, nssv26074, nssv27005, nssv26995, nssv27200, nssv25603, nssv27202, nssv27497, nssv27174
SamplesNA18502, NA12155, NA18860, NA18853, NA19132, NA18517, NA19240, NA19144, NA18972
Known GenesCA4, LOC645638, LOC653653
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)nsv9579
Frequency
Sample Size31
Observed Gain8
Observed Loss1
Observed Complex0
Frequencyn/a


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