A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15216



Internal ID15483042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57924288..57940941hg38UCSC Ensembl
Outerchr6:57924237..57942742hg38UCSC Ensembl
Innerchr6:58250566..58267219hg19UCSC Ensembl
Outerchr6:58250515..58269020hg19UCSC Ensembl
Innerchr6:58358525..58375178hg18UCSC Ensembl
Outerchr6:58358474..58376979hg18UCSC Ensembl
Innerchr6:58358525..58375178hg17UCSC Ensembl
Outerchr6:58358474..58376979hg17UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg3818506
hg1918506
hg1818506
hg1718506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7906
Supporting Variants
SamplesNA10863
Known GenesGUSBP4
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)nssv15216
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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