A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8513



Internal ID15499739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:162381656..162384955hg38UCSC Ensembl
Outerchr1:162351446..162354745hg19UCSC Ensembl
Outerchr1:160618070..160621369hg18UCSC Ensembl
Outerchr1:159083104..159086403hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383300
hg193300
hg183300
hg173300
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22087, nssv22431, nssv23080, nssv26552, nssv23087
SamplesNA18975, NA18860, NA12155, NA11830, NA19240
Known GenesC1orf226
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)nsv8513
Frequency
Sample Size31
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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