A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12995



Internal ID15482430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70168473..70169763hg38UCSC Ensembl
Outerchr5:70168227..70170493hg38UCSC Ensembl
Innerchr5:69464300..69465590hg19UCSC Ensembl
Outerchr5:69464054..69466320hg19UCSC Ensembl
Innerchr5:69500056..69501346hg18UCSC Ensembl
Outerchr5:69499810..69502076hg18UCSC Ensembl
Innerchr5:69500056..69501346hg17UCSC Ensembl
Outerchr5:69499810..69502076hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382267
hg192267
hg182267
hg172267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10847
Known GenesSMA4
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)nssv12995
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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