A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13686



Internal ID15482955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71128888..71132735hg38UCSC Ensembl
Outerchr5:71128365..71133050hg38UCSC Ensembl
Innerchr5:70424715..70428562hg19UCSC Ensembl
Outerchr5:70424192..70428877hg19UCSC Ensembl
Innerchr5:70460471..70464318hg18UCSC Ensembl
Outerchr5:70459948..70464633hg18UCSC Ensembl
Innerchr5:70460471..70464318hg17UCSC Ensembl
Outerchr5:70459948..70464633hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg384686
hg194686
hg184686
hg174686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10863
Known GenesNAIP
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)nssv13686
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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