A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17075



Internal ID15482172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148458145..148458146hg38UCSC Ensembl
Outerchr1:148457059..148458561hg38UCSC Ensembl
Innerchr1:147930266..147930267hg19UCSC Ensembl
Outerchr1:147929180..147930682hg19UCSC Ensembl
Innerchr1:146396890..146396891hg18UCSC Ensembl
Outerchr1:146395804..146397306hg18UCSC Ensembl
Innerchr1:145045178..145045179hg17UCSC Ensembl
Outerchr1:145044092..145045594hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381503
hg191503
hg181503
hg171503
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8225
Supporting Variants
SamplesNA10847
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)nssv17075
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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