A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15690



Internal ID15497497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70016282..70100562hg38UCSC Ensembl
Outerchr5:70015658..70100563hg38UCSC Ensembl
Innerchr5:69312109..69396389hg19UCSC Ensembl
Outerchr5:69311485..69396390hg19UCSC Ensembl
Innerchr5:69347865..69432145hg18UCSC Ensembl
Outerchr5:69347241..69432146hg18UCSC Ensembl
Innerchr5:69347865..69432145hg17UCSC Ensembl
Outerchr5:69347241..69432146hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3884906
hg1984906
hg1884906
hg1784906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19221
Known GenesSERF1A, SERF1B, SMA4, SMN1, SMN2
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)nssv15690
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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