A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17619



Internal ID15484871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7254858..7295813hg38UCSC Ensembl
Outerchr8:7254531..7295841hg38UCSC Ensembl
Innerchr8:7112380..7153335hg19UCSC Ensembl
Outerchr8:7112053..7153363hg19UCSC Ensembl
Innerchr8:7099790..7140745hg18UCSC Ensembl
Outerchr8:7099463..7140773hg18UCSC Ensembl
Innerchr8:7099790..7140745hg17UCSC Ensembl
Outerchr8:7099463..7140773hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3841311
hg1941311
hg1841311
hg1741311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA12740
Known GenesLINC00965
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)nssv17619
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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