A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13355



Internal ID15482372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71035887..71061768hg38UCSC Ensembl
Outerchr5:71035765..71065287hg38UCSC Ensembl
Innerchr5:70331714..70357595hg19UCSC Ensembl
Outerchr5:70331592..70361114hg19UCSC Ensembl
Innerchr5:70367470..70393351hg18UCSC Ensembl
Outerchr5:70367348..70396870hg18UCSC Ensembl
Innerchr5:70367470..70393351hg17UCSC Ensembl
Outerchr5:70367348..70396870hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3829523
hg1929523
hg1829523
hg1729523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10847
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D
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)nssv13355
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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