A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17755



Internal ID15494086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148512542..148521784hg38UCSC Ensembl
Outerchr1:148512297..148522217hg38UCSC Ensembl
Innerchr1:147984766..147993351hg19UCSC Ensembl
Outerchr1:147984521..147993784hg19UCSC Ensembl
Innerchr1:146451390..146459975hg18UCSC Ensembl
Outerchr1:146451145..146460408hg18UCSC Ensembl
Innerchr1:145099678..145108263hg17UCSC Ensembl
Outerchr1:145099433..145108696hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg389921
hg199264
hg189264
hg179264
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8225
Supporting Variants
SamplesNA18980
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)nssv17755
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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