A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14235



Internal ID15488297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31984244..32044550hg38UCSC Ensembl
Outerchr6:31983646..32044574hg38UCSC Ensembl
Innerchr6:31952021..32012327hg19UCSC Ensembl
Outerchr6:31951423..32012351hg19UCSC Ensembl
Innerchr6:32060000..32120306hg18UCSC Ensembl
Outerchr6:32059402..32120330hg18UCSC Ensembl
Innerchr6:32060000..32120306hg17UCSC Ensembl
Outerchr6:32059402..32120330hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3860929
hg1960929
hg1860929
hg1760929
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10824
Supporting Variants
SamplesNA18537
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, STK19, TNXA, TNXB
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)nssv14235
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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