A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17405



Internal ID15482499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148509139..148517215hg38UCSC Ensembl
Outerchr1:148508514..148517312hg38UCSC Ensembl
Innerchr1:147981364..147989442hg19UCSC Ensembl
Outerchr1:147980734..147989539hg19UCSC Ensembl
Innerchr1:146447988..146456066hg18UCSC Ensembl
Outerchr1:146447358..146456163hg18UCSC Ensembl
Innerchr1:145096276..145104354hg17UCSC Ensembl
Outerchr1:145095646..145104451hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg388799
hg198806
hg188806
hg178806
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8225
Supporting Variants
SamplesNA10847
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)nssv17405
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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