A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13562



Internal ID15827454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129329942..129411227hg38UCSC Ensembl
Outerchr5:129328952..129411605hg38UCSC Ensembl
Innerchr5:128665635..128746920hg19UCSC Ensembl
Outerchr5:128664645..128747298hg19UCSC Ensembl
Innerchr5:128693534..128774819hg18UCSC Ensembl
Outerchr5:128692544..128775197hg18UCSC Ensembl
Innerchr5:128693534..128774819hg17UCSC Ensembl
Outerchr5:128692544..128775197hg17UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3882654
hg1982654
hg1882654
hg1782654
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10749
Supporting Variants
SamplesNA07029
Known GenesMIR4460
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)nssv13562
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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