A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15252



Internal ID15832949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:175939400..175954631hg38UCSC Ensembl
Outerchr5:175938882..175955301hg38UCSC Ensembl
Innerchr5:175366403..175381634hg19UCSC Ensembl
Outerchr5:175365885..175382304hg19UCSC Ensembl
Innerchr5:175299009..175314240hg18UCSC Ensembl
Outerchr5:175298491..175314910hg18UCSC Ensembl
Innerchr5:175299009..175314240hg17UCSC Ensembl
Outerchr5:175298491..175314910hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3816420
hg1916420
hg1816420
hg1716420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10775
Supporting Variants
SamplesNA18502
Known Genes
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)nssv15252
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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