A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17079



Internal ID15484837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148459976..148459985hg38UCSC Ensembl
Outerchr1:148459674..148460469hg38UCSC Ensembl
Innerchr1:147932104..147932113hg19UCSC Ensembl
Outerchr1:147931796..147932597hg19UCSC Ensembl
Innerchr1:146398728..146398737hg18UCSC Ensembl
Outerchr1:146398420..146399221hg18UCSC Ensembl
Innerchr1:145047016..145047025hg17UCSC Ensembl
Outerchr1:145046708..145047509hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38796
hg19802
hg18802
hg17802
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8225
Supporting Variants
SamplesNA12740
Known GenesLINC01138, NBPF10, 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)nssv17079
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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