A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9498



Internal ID15847410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:16813017..16874492hg38UCSC Ensembl
Outerchr17:16716331..16777806hg19UCSC Ensembl
Outerchr17:16657056..16718531hg18UCSC Ensembl
Outerchr17:16657056..16718531hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3861476
hg1961476
hg1861476
hg1761476
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26782, nssv23945, nssv24560, nssv25998, nssv23244, nssv22860, nssv27123, nssv26700, nssv23523, nssv23427, nssv26611, nssv24874, nssv24100, nssv28171, nssv25606
SamplesNA18980, NA18504, NA18563, NA18860, NA07048, NA10863, NA19221, NA18537, NA18853, NA19132, NA18517, NA19240, NA19144, NA19173, NA18972
Known GenesKRT16P2
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)nsv9498
Frequency
Sample Size31
Observed Gain1
Observed Loss14
Observed Complex0
Frequencyn/a


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