A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26552



Internal ID15483832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:162383155..162384422hg38UCSC Ensembl
Outerchr1:162381656..162384955hg38UCSC Ensembl
Innerchr1:162352945..162354212hg19UCSC Ensembl
Outerchr1:162351446..162354745hg19UCSC Ensembl
Innerchr1:160619569..160620836hg18UCSC Ensembl
Outerchr1:160618070..160621369hg18UCSC Ensembl
Innerchr1:159084603..159085870hg17UCSC 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 StatusS
Merged Variantsnsv8513
Supporting Variants
SamplesNA12155
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)nssv26552
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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