A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248



Internal ID15842732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26915042..26915144hg38UCSC Ensembl
Outerchr6:26914198..26915478hg38UCSC Ensembl
Innerchr6:26882821..26882923hg19UCSC Ensembl
Outerchr6:26881977..26883257hg19UCSC Ensembl
Innerchr6:26990800..26990902hg18UCSC Ensembl
Outerchr6:26989956..26991236hg18UCSC Ensembl
Innerchr6:26990800..26990902hg17UCSC Ensembl
Outerchr6:26989956..26991236hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381281
hg191281
hg181281
hg171281
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10806
Supporting Variants
SamplesNA19144
Known GenesGUSBP2
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)nssv14248
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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