A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16454



Internal ID15487619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32011696..32016384hg38UCSC Ensembl
Outerchr6:32011229..32016982hg38UCSC Ensembl
Innerchr6:31979473..31984161hg19UCSC Ensembl
Outerchr6:31979006..31984759hg19UCSC Ensembl
Innerchr6:32087451..32092139hg18UCSC Ensembl
Outerchr6:32086984..32092737hg18UCSC Ensembl
Innerchr6:32087451..32092139hg17UCSC Ensembl
Outerchr6:32086984..32092737hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg385754
hg195754
hg185754
hg175754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10824
Supporting Variants
SamplesNA18517
Known GenesC4A, C4B, C4B_2, 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)nssv16454
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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