A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18071



Internal ID15485651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148506238..148523092hg38UCSC Ensembl
Outerchr1:148502266..148523449hg38UCSC Ensembl
Innerchr1:147978421..147994640hg19UCSC Ensembl
Outerchr1:147974783..147994996hg19UCSC Ensembl
Innerchr1:146445045..146461264hg18UCSC Ensembl
Outerchr1:146441407..146461620hg18UCSC Ensembl
Innerchr1:145093333..145109552hg17UCSC Ensembl
Outerchr1:145089695..145109908hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3821184
hg1920214
hg1820214
hg1720214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8225
Supporting Variants
SamplesNA12872
Known GenesNBPF10, NBPF8
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)nssv18071
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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