A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10217



Internal ID15498494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:61968232..61987532hg38UCSC Ensembl
Outerchr1:62433904..62453204hg19UCSC Ensembl
Outerchr1:62206492..62225792hg18UCSC Ensembl
Outerchr1:62145925..62165225hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3819301
hg1919301
hg1819301
hg1719301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16424, nssv16110, nssv12447
SamplesNA18517, NA19221, NA19132
Known GenesINADL
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)nsv10217
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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