A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13648



Internal ID15496072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70864097..70983848hg38UCSC Ensembl
Outerchr5:70863137..70984280hg38UCSC Ensembl
Innerchr5:70159924..70279675hg19UCSC Ensembl
Outerchr5:70158964..70280107hg19UCSC Ensembl
Innerchr5:70195680..70315431hg18UCSC Ensembl
Outerchr5:70194720..70315863hg18UCSC Ensembl
Innerchr5:70195680..70315431hg17UCSC Ensembl
Outerchr5:70194720..70315863hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38121144
hg19121144
hg18121144
hg17121144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19144
Known GenesNAIP, SERF1A, SERF1B, SMN1, SMN2
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)nssv13648
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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