A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9585



Internal ID15847497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:64841777..64934022hg38UCSC Ensembl
Outerchr17:62837895..62930140hg19UCSC Ensembl
Outerchr17:60268357..60360602hg18UCSC Ensembl
Outerchr17:60268357..60360602hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3892246
hg1992246
hg1892246
hg1792246
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28365, nssv27230, nssv24838, nssv25671, nssv24383, nssv24366, nssv23246, nssv24102, nssv24316, nssv21215, nssv23274, nssv21611, nssv26489, nssv24796, nssv23586, nssv21739, nssv25037, nssv26093, nssv23558
SamplesNA18502, NA11830, NA18980, NA12155, NA18563, NA18942, NA10839, NA18975, NA10847, NA12872, NA18572, NA19221, NA18537, NA18564, NA19240, NA19144, NA18552
Known GenesLRRC37A3
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)nsv9585
Frequency
Sample Size31
Observed Gain13
Observed Loss6
Observed Complex0
Frequencyn/a


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