A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14676



Internal ID15482807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29530983..29532507hg38UCSC Ensembl
Outerchr6:29530551..29533562hg38UCSC Ensembl
Innerchr6:29498760..29500284hg19UCSC Ensembl
Outerchr6:29498328..29501339hg19UCSC Ensembl
Innerchr6:29606739..29608263hg18UCSC Ensembl
Outerchr6:29606307..29609318hg18UCSC Ensembl
Innerchr6:29606739..29608263hg17UCSC Ensembl
Outerchr6:29606307..29609318hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg383012
hg193012
hg183012
hg173012
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10807
Supporting Variants
SamplesNA10863
Known GenesLINC01015
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)nssv14676
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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